Achondroplasia with the FGFR3 1138g-->a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father.
Détails
ID Serval
serval:BIB_11B43B1A1C0A
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Achondroplasia with the FGFR3 1138g-->a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father.
Périodique
Journal of Medical Genetics
ISSN
1468-6244 (Electronic)
ISSN-L
0022-2593
Statut éditorial
Publié
Date de publication
2000
Volume
37
Numéro
12
Pages
958-959
Langue
anglais
Notes
Publication types: Case Reports ; Letter ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Publication Status: ppublish
Mots-clé
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
Web of science
Création de la notice
14/03/2011 17:14
Dernière modification de la notice
20/08/2019 13:39
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