Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. (Record no. 27937433)

MARC details
000 -LEADER
fixed length control field 03837 a2201285 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517193136.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201812s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1537-6605
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.ajhg.2017.12.001
Source of number or code doi
040 ## - CATALOGING SOURCE
Original cataloging agency NLM
Language of cataloging eng
Transcribing agency NLM
100 1# - MAIN ENTRY--PERSONAL NAME
Personal name Koczkowska, Magdalena
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20181211
245 00 - TITLE STATEMENT
Title Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of human genetics
Date of publication, distribution, etc. 01 2018
300 ## - PHYSICAL DESCRIPTION
Extent 69-87 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adolescent
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Amino Acid Sequence
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Codon
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cohort Studies
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Computer Simulation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Demography
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Female
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Association Studies
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Heterozygote
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation, Missense
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Neurofibromatosis 1
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Neurofibromin 1
General subdivision chemistry
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Phenotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Young Adult
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chen, Yunjia
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Personal name Callens, Tom
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Personal name Gomes, Alicia
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Personal name Sharp, Angela
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Johnson, Sherrell
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hsiao, Meng-Chang
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chen, Zhenbin
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Personal name Balasubramanian, Meena
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Personal name Barnett, Christopher P
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Personal name Becker, Troy A
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Personal name Ben-Shachar, Shay
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Personal name Bertola, Debora R
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Personal name Blakeley, Jaishri O
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Personal name Burkitt-Wright, Emma M M
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Personal name Callaway, Alison
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Personal name Crenshaw, Melissa
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Personal name Cunha, Karin S
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Personal name Cunningham, Mitch
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Personal name D'Agostino, Maria D
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Personal name Dahan, Karin
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Personal name De Luca, Alessandro
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Personal name Destrée, Anne
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Personal name Dhamija, Radhika
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Personal name Eoli, Marica
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Personal name Evans, D Gareth R
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Personal name Galvin-Parton, Patricia
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Personal name George-Abraham, Jaya K
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Personal name Gripp, Karen W
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Personal name Guevara-Campos, Jose
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Personal name Hanchard, Neil A
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Personal name Hernández-Chico, Concepcion
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Personal name Immken, LaDonna
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Personal name Janssens, Sandra
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Personal name Jones, Kristi J
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Personal name Keena, Beth A
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Personal name Kochhar, Aaina
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Personal name Liebelt, Jan
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Personal name Martir-Negron, Arelis
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Personal name Mahoney, Maurice J
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Personal name Maystadt, Isabelle
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Personal name McDougall, Carey
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Personal name McEntagart, Meriel
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Personal name Mendelsohn, Nancy
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Personal name Miller, David T
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Personal name Mortier, Geert
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Personal name Morton, Jenny
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Personal name Pappas, John
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Personal name Plotkin, Scott R
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Personal name Pond, Dinel
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Personal name Rosenbaum, Kenneth
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Personal name Rubin, Karol
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Personal name Russell, Laura
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Personal name Rutledge, Lane S
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Personal name Saletti, Veronica
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Personal name Schonberg, Rhonda
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Personal name Schreiber, Allison
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Personal name Seidel, Meredith
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Personal name Siqveland, Elizabeth
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Personal name Stockton, David W
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Personal name Trevisson, Eva
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Personal name Ullrich, Nicole J
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Personal name Upadhyaya, Meena
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Personal name van Minkelen, Rick
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Personal name Verhelst, Helene
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Personal name Wallace, Margaret R
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Personal name Yap, Yoon-Sim
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Personal name Zackai, Elaine
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Personal name Zonana, Jonathan
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Personal name Zurcher, Vickie
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Personal name Claes, Kathleen
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Personal name Martin, Yolanda
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Personal name Korf, Bruce R
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Personal name Legius, Eric
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Personal name Messiaen, Ludwine M
773 0# - HOST ITEM ENTRY
Title American journal of human genetics
Related parts vol. 102
-- no. 1
-- p. 69-87
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ajhg.2017.12.001">https://doi.org/10.1016/j.ajhg.2017.12.001</a>
Public note Available from publisher's website

No items available.