Title: | Two independent mutations of the SMN1 gene in the same spinal muscular atrophy family branch : Lessons for carrier diagnosis |
Journal : | Genetics in medicine, 8, 4 |
Authors: | Barcelo MJ ; Alias L ; Caselles L ; Robles Y ; Baiget M ; Tizzano EF |
Material Type: | Article |
Publication Date: | 2006 |
Size: | p. 259-262 |
Languages: | English |
Keywords : | diagnosis ; family ; family trees ; gene expression ; genetic linkage ; genetic mutations ; genetics ; SMN1 gene ; SMN1-related proximal spinal muscular atrophy |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/pubmed/16617248?ordinalpos=4&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum |