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Article

[Advances in molecular genetics of the Niemann-Pick group of diseases].

Nihon rinsho. Japanese journal of clinical medicine - 1 Sept 1993

Ohno K

Abstract excerpt

Recent advances in molecular genetics of the Niemann-Pick group of diseases are reviewed. Types A and B Niemann-Pick disease are characterized by a deficiency of one of lysosomal hydrolases, i.e. acid sphingomyelinase. The enzyme was partially purified from a large amount of urine and the cDNA clones, encoding acid sphingomyelinase, were cloned. The gene encoding the enzyme has been localized at the region p...

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PMID: 8411705

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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