Title : Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients.

Pub. Date : 1991 Sep

PMID : 1885770






1 Functional Relationships(s)
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1 A three-base deletion was identified of nucleotides 1821-1823 in the cDNA which predicted the removal of an arginine residue from position 608 of the acid sphingomyelinase polypeptide (delta R608). Arginine sphingomyelin phosphodiesterase 1 Homo sapiens