Title: | Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome |
Journal : | Human mutation, 27, 11 |
Authors: | Stum M ; Davoine CS ; Vicart S ; Guillot-Noël L ; Topaloglu H ; Carod-Artal FJ ; Kayserili H ; Hentati F ; Merlini L ; Urtizberea JA ; Hammouda EH ; Quan PC ; Fontaine B ; Nicole S |
Material Type: | Article |
Publication Date: | 2006 |
Size: | p. 1082-1091 |
Languages: | English |
Keywords : | diagnosis ; genetic mutations ; genotype-phenotype correlation ; HSPG2 gene ; immunohistochemistry ; messenger RNA ; molecular genetics ; muscle biopsies ; muscle stiffness ; osteochondrodysplasia ; perlecan ; Schwartz-Jampel syndrome ; skeletal muscle |
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=16927315&query_hl=1&itool=pubmed_docsum |