Title: | The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4 |
Journal : | Clinical genetics, 71, 4 |
Authors: | Claramunt R ; Sevilla T ; Lupo V ; Cuesta A ; Millan JM ; Vilchez JJ ; Palau F ; Espinos C |
Material Type: | Article |
Publication Date: | 2007 |
Size: | p. 343-349 |
Languages: | English |
Keywords : | Charcot-Marie-Tooth disease, demyelinating, autosomal recessive (CMT4) ; family trees ; genetic linkage ; genetic mutations ; Gypsies ; molecular genetics ; SH3TC2 gene ; Spain |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=17470135&query_hl=16&itool=pubmed_docsum |