Title: | Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands |
Journal : | European journal of human genetics, 9 |
Authors: | Santer R ; Kinner M ; Steuerwald U ; Kjaergaard S ; Skovby F ; Simonsen H ; Shaiu WL ; Chen YT ; Schneppenheim R ; Schaub J |
Material Type: | Article |
Publication Date: | 2001 |
Size: | p. 388-391 |
Languages: | English |
Keywords : | AGL gene ; Cori-Forbes disease ; Denmark ; founder effect ; glycogen debranching enzyme ; molecular genetics ; nonsense mutations ; prenatal diagnosis ; prevalence ; 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=11378828&query_hl=9&itool=pubmed_DocSum |