Title: | Molecular analysis of the AGL gene : identification of 25 novel mutations and evidence of genetic heterogeneity in patients with glycogen storage disease type III |
Journal : | Genetics in medicine, 12, 7 |
Authors: | Goldstein JL ; Austin SL ; Boyette K ; Kanaly A ; Veerapandiyan A ; Rehder C ; Kishnani PS ; Bali DS |
Material Type: | Article |
Publication Date: | 07/2010 |
Size: | p. 424-430 |
Languages: | English |
Keywords : | AGL gene ; Cori-Forbes disease ; genetic heterogeneity ; genetic mutations ; genotype-phenotype correlation ; glycogen debranching enzyme ; molecular genetics ; nucleotide sequences |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/pubmed/20648714 |