Gene Symbol: ARSB
OMIM: 611542Chromosome location: 5q14.1
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Turkey | NA | NA | 5 patients | NA | Kantaputra PN et al., 2014Kantaputra PN, Kayserili H, Guven Y, Kantaputra W, Balci MC, Tanpaiboon P, Tananuvat N, Uttarilli A, Dalal A, . Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations.. Am. J. Med. Genet. A. 2014; 0(0): |
References
Kantaputra PN, Kayserili H, Guven Y, Kantaputra W, Balci MC, Tanpaiboon P, Tananuvat N, Uttarilli A, Dalal A, Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations.Am. J. Med. Genet. A. 2014; 0(0):