Title: | A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy |
Journal : | Human molecular genetics, 15, 21 |
Authors: | Tosch V ; Rohde HM ; Tronchere H ; Zanoteli E ; Monroy N ; Kretz C ; Dondaine N ; Payrastre B ; Mandel JL ; Laporte J |
Material Type: | Article |
Publication Date: | 2006 |
Size: | p. 3098-3106 |
Languages: | English |
Keywords : | dynamin 2 ; dynamin 2 related autosomal dominant centronuclear myopathy ; enzyme activity ; ex vivo ; genetic mutations ; in vitro ; myotubularin ; phosphorylation ; 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=17008356&query_hl=4&itool=pubmed_docsum |