Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): Exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): Exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop

Authors:	M.L. Huie J.S. Kasper P.H. Arn C.R. Greenberg R. Hirschhorn

Abstract:

Keywords:	cleft lip glycogen storage disease type II (GSDII) nonsense mutation acid α -glucosidase Pompe disease