Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 2 (of 2 Records) |
Query Trace: Morquio Syndrome B[original query] |
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[RFLP of a StuI site in the GALNS gene in Morquio Syndrome of Guangdong national minority population]. Yi chuan = Hereditas 2005 1 25 (4): 388-90. Guo Yi-Bin, Du Chuan-Shu, Lin Qun- |
The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome. BMC genomics 2022 Jun 23 (1): 458. Sheth Harsh, Naik Premal, Shah Maulin, Bhavsar Riddhi, Nair Aadhira, Sheth Frenny, Sheth Jaye |
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