An uncommon G375C substitution in a newborn with achondroplasia.
Details
Serval ID
serval:BIB_35B5831B89F7
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
Title
An uncommon G375C substitution in a newborn with achondroplasia.
Journal
Genetic Counseling
ISSN
1015-8146
Publication state
Published
Issued date
2000
Peer-reviewed
Oui
Volume
11
Number
2
Pages
169-174
Language
english
Notes
Publication types: Case Reports ; Journal Article
Abstract
We report a G-to-T de novo transversion mutation causing the substitution of a glycine with a cysteine (G375C) in a newborn with achondroplasia. This rare observation confirms allelic heterogeneity.
Keywords
Achondroplasia, Alleles, Amino Acid Substitution, Codon, Cysteine, Glycine, Humans, Infant, Infant, Newborn, Male, Mutation, Missense, Polymerase Chain Reaction, Polymorphism, Single-Stranded Conformational, Protein-Tyrosine Kinases, Receptor, Fibroblast Growth Factor, Type 3, Receptors, Fibroblast Growth Factor
Pubmed
Web of science
Create date
28/02/2008 12:52
Last modification date
20/08/2019 14:23
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