Mutation analysis in 24 French patients with glycogen storage disease type 1a.

Both alleles of 24 French glycogen storage disease type 1a patients were sequenced: 14 different mutations allowed the identification of complete genotypes for all the patients. Nine new gene alterations are reported. Five mutations, Q347X, R83C, D38V, G188R, and 158 del C, account for 75% of the mu...

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Hlavní autoři: Chevalier-Porst, F, Bozon, D, Bonardot, A M, Bruni, N, Mithieux, G, Mathieu, M, Maire, I
Médium: Artigo
Jazyk:Inglês
Vydáno: 1996
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050601/
https://ncbi.nlm.nih.gov/pubmed/8733042
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