Title: | Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy |
Journal : | New England Journal of Medicine (The), 362, 13 |
Authors: | Lupski JR ; Reid JG ; Gonzaga-Jauregui C ; Rio Deiros D ; Chen DCY ; Nazareth L ; Bainbridge M ; Dinh H ; Jing C ; Wheeler DA ; McGuire AL ; Zhang F ; Stankiewicz P ; Halperin JJ ; Yang C ; Gehman C ; Guo D ; Irikat RK ; Tom W ; Fantin NJ ; Muzny DM ; Gibbs RA |
Material Type: | Article |
Publication Date: | 2010 |
Size: | p. 1181-1191 |
Languages: | English |
Keywords : | adulthood ; CMT2 autosomal recessive form ; family ; genetic diagnosis ; genetic mutations ; genotype-phenotype correlation ; human genome ; nucleotide sequences ; SH3TC2 gene |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/pubmed/20220177 |
Pubmed / DOI : | DOI : 10.1056/NEJMoa0908094 |