Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum. (Record no. 14381753)

MARC details
000 -LEADER
fixed length control field 01544 a2200481 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250514163144.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200408s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1018-4813
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1038/sj.ejhg.5201066
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 de Paula, Flavia
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20040819
245 00 - TITLE STATEMENT
Title Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. European journal of human genetics : EJHG
Date of publication, distribution, etc. Dec 2003
300 ## - PHYSICAL DESCRIPTION
Extent 923-30 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 Adult
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Base 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 Child, Preschool
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosomes, Human, Pair 19
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Primers
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 Carrier Screening
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Homozygote
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
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pentosyltransferases
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Proteins
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vieira, Natássia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Starling, Alessandra
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Yamamoto, Lydia Uraco
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lima, Bruno
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Cássia Pavanello, Rita
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vainzof, Mariz
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nigro, Vincenzo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zatz, Mayana
773 0# - HOST ITEM ENTRY
Title European journal of human genetics : EJHG
Related parts vol. 11
-- no. 12
-- p. 923-30
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1038/sj.ejhg.5201066">https://doi.org/10.1038/sj.ejhg.5201066</a>
Public note Available from publisher's website

No items available.