Title : Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.

Pub. Date : 1992 Apr

PMID : 1550123






1 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 Proband 1 was homoallelic for a T-to-C transition in nucleotide (nt) 349, which predicted a cysteine-to-arginine substitution in the ASB polypeptide at residue 117 (C117R). Arginine arylsulfatase B Homo sapiens