Title: | A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families |
Journal : | Clinical genetics, 76, 1 |
Authors: | Cotarelo RP ; Fano O ; Raducu M ; Pena A ; Tarilonte P ; Mateos F ; Simon R ; Cabello A ; Cruces J |
Material Type: | Article |
Publication Date: | 2009 |
Size: | p. 108-112 |
Languages: | English |
Keywords : | brain ; case studies ; consanguinity ; creatine kinase ; exon skipping ; family ; founder effect ; genetic mutations ; Gypsies ; letters ; male ; molecular genetics ; MRI ; muscle biopsies ; POMT1 gene ; siblings ; skeletal muscle ; Spain ; Walker-Warburg syndrome |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/pubmed/19519795?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum |
Pubmed / DOI : | DOI : 10.1111/j.1399-0004.2009.01188.x |