Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III.
作者信息
Raas-Rothschild A, Bargal R, Goldman O, Ben-Asher E, Groener J E M, Toutain A, Stemmer E, Ben-Neriah Z, Flusser H, Beemer F A, Penttinen M, Olender T, Rein A J J T, Bach G, Zeigler M
机构信息
Department of Human Genetics, Hadassah University Medical Center, Jerusalem, Israel.
出版信息
J Med Genet. 2004 Apr;41(4):e52. doi: 10.1136/jmg.2003.015222.
Abstract
摘要
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