OMIM: 253200Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | ARSB |
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| Dna Change: | c.962T>C |
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| Protein Change: | p.Leu321Pro |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 5 |
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| Transcript: | NM_000046.3 |
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| 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):