Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. (Record no. 27937433)
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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 |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Callens, Tom |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Gomes, Alicia |
700 1# - ADDED ENTRY--PERSONAL NAME | |
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 |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Balasubramanian, Meena |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Barnett, Christopher P |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Becker, Troy A |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Ben-Shachar, Shay |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Bertola, Debora R |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Blakeley, Jaishri O |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Burkitt-Wright, Emma M M |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Callaway, Alison |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Crenshaw, Melissa |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Cunha, Karin S |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Cunningham, Mitch |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | D'Agostino, Maria D |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Dahan, Karin |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | De Luca, Alessandro |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Destrée, Anne |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Dhamija, Radhika |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Eoli, Marica |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Evans, D Gareth R |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Galvin-Parton, Patricia |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | George-Abraham, Jaya K |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Gripp, Karen W |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Guevara-Campos, Jose |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Hanchard, Neil A |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Hernández-Chico, Concepcion |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Immken, LaDonna |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Janssens, Sandra |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Jones, Kristi J |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Keena, Beth A |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Kochhar, Aaina |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Liebelt, Jan |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Martir-Negron, Arelis |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Mahoney, Maurice J |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Maystadt, Isabelle |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | McDougall, Carey |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | McEntagart, Meriel |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Mendelsohn, Nancy |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Miller, David T |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Mortier, Geert |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Morton, Jenny |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Pappas, John |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Plotkin, Scott R |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Pond, Dinel |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Rosenbaum, Kenneth |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Rubin, Karol |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Russell, Laura |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Rutledge, Lane S |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Saletti, Veronica |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Schonberg, Rhonda |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Schreiber, Allison |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Seidel, Meredith |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Siqveland, Elizabeth |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Stockton, David W |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Trevisson, Eva |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Ullrich, Nicole J |
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Personal name | Upadhyaya, Meena |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | van Minkelen, Rick |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Verhelst, Helene |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Wallace, Margaret R |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Yap, Yoon-Sim |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Zackai, Elaine |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Zonana, Jonathan |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Zurcher, Vickie |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Claes, Kathleen |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Martin, Yolanda |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Korf, Bruce R |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Legius, Eric |
700 1# - ADDED ENTRY--PERSONAL NAME | |
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.