Title: | Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy |
Journal : | Journal of human genetics, 57, 10 |
Authors: | Lin P ; Li W ; Wen B ; Zhao Y ; Fenster DS ; Wang Y ; Gong Y ; Yan C |
Material Type: | Article |
Publication Date: | 2012 |
Size: | p. 679-681 |
Languages: | English |
Keywords : | China ; consanguinity ; genetic diagnosis ; genetic mutations ; genotype-phenotype correlation ; muscle biopsies ; muscle histopathology ; neutral lipid storage disorder with myopathy ; photographies ; PNPLA2 gene ; skeletal muscle |
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=22832386 |
Pubmed / DOI : | DOI : 10.1038/jhg.2012.84 |