Achondroplasia with the FGFR3 1138g-->a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father.

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Serval ID
serval:BIB_11B43B1A1C0A
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Production externe
Title
Achondroplasia with the FGFR3 1138g-->a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father.
Journal
Journal of Medical Genetics
Author(s)
Sobetzko D., Braga S., Rüdeberg A., Superti-Furga A.
ISSN
1468-6244 (Electronic)
ISSN-L
0022-2593
Publication state
Published
Issued date
2000
Volume
37
Number
12
Pages
958-959
Language
english
Notes
Publication types: Case Reports ; Letter ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Keywords
Achondroplasia/genetics, Adenine, Adult, Amino Acid Substitution/genetics, Arginine/genetics, Child, Female, Glycine/genetics, Guanine, Haplotypes/genetics, Humans, Male, Nuclear Family, Pedigree, Point Mutation/genetics, Protein-Tyrosine Kinases, Receptor, Fibroblast Growth Factor, Type 3, Receptors, Fibroblast Growth Factor/genetics
Pubmed
11186940
Web of science
000165982100013
Create date
14/03/2011 17:14
Last modification date
20/08/2019 13:39
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