Mutations in ARSB in MPS VI patients in India

Mucopolysaccharidosis VI (MPS VI) is an autosomal recessive inborn error of metabolism caused by mutations in the arylsulfatase B gene (ARSB) and consequent deficient activity of ARSB, a lysosomal enzyme. We present here the results of a study undertaken to identify the mutations in ARSB in MPS VI p...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Genet Metab Rep
Egile Nagusiak: Mathew, Juby, Jagadeesh, Sujatha M., Bhat, Meenakshi, Udhaya Kumar, S., Thiyagarajan, Saravanamuthu, Srinivasan, Sudha
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2015
Gaiak:
Research Paper
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4750586/
https://ncbi.nlm.nih.gov/pubmed/26937411
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2015.06.002
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