A carregar...

Clinical and Molecular Genetic Analysis of 19 Wolfram Syndrome Kindreds Demonstrating a Wide Spectrum of Mutations in WFS1

Wolfram syndrome is an autosomal recessive neurodegenerative disorder characterized by juvenile-onset diabetes mellitus and progressive optic atrophy. mtDNA deletions have been described, and a gene (WFS1) recently has been identified, on chromosome 4p16, encoding a predicted 890 amino acid transmem...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Hardy, Carol, Khanim, Farhat, Torres, Rosarelis, Scott-Brown, Martin, Seller, Anneke, Poulton, Joanna, Collier, David, Kirk, Jeremy, Polymeropoulos, Mihael, Latif, Farida, Barrett, Timothy
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 1999
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288280/
https://ncbi.nlm.nih.gov/pubmed/10521293
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!