A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders

Saranjam, Hamid; Chopra, Sameer S; Levy, Harvey; Stubblefield, Barbara K; Maniwang, Emerson; Cohen, Ian J; Baris, Hagit; Sidransky, Ellen; Tayebi, Nahid

期刊名称European Journal of Human Genetics
作者Saranjam, Hamid; Chopra, Sameer S; Levy, Harvey; Stubblefield, Barbara K; Maniwang, Emerson; Cohen, Ian J; Baris, Hagit; Sidransky, Ellen; Tayebi, Nahid
卷第21卷
期第1期
印刷ISSN1018-4813
电子ISSN1476-5438
文件大小344.03KB
发表时间2013-1
DOI10.1038/ejhg.2012.105
页码115-117

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A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders