Title: | A mutation in the human ryanodine receptor gene associated with central core disease |
Journal : | Nature genetics, 5, 1 |
Authors: | Zhang Y ; Chen HS ; Khanna VK ; de Leon S ; Phillips MS ; Schappert K |
Material Type: | Article |
Publication Date: | 1993 |
Size: | p. 46-50 |
Languages: | English |
Keywords : | alternative splicing ; central core disease ; complementary DNA ; family trees ; genetic linkage ; homologous sequences ; human ; malignant hyperthermia ; pig ; point mutations ; rabbit ; RFLP ; ryanodine receptor ; sequencing ; 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=Abstract&list_uids=8220422&query_hl=23 |