Title: | A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease |
Journal : | European journal of human genetics, 21, 2 |
Authors: | Nicolaou P ; Cianchetti C ; Minaidou A ; Marrosu G ; Zamba-Papanicolaou E ; Middleton LT ; Christodoulou K |
Material Type: | Article |
Publication Date: | 2013 |
Size: | p. 190-194 |
Languages: | English |
Keywords : | alternative splicing ; candidate genes ; chromosome 9 ; CMT2 autosomal dominant form ; complementary DNA ; family ; family trees ; genetic linkage ; genetic mutations ; Italy ; LRSAM1 gene ; molecular genetics ; terminator codons |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=22781092 |
Pubmed / DOI : | DOI : 10.1038/ejhg.2012.146 |