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

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 cl...

Topics

Animals
Chromosome Mapping
Cloning, Molecular
DNA
Humans
Lysosomes
Mice
Mice, Inbred BALB C
Mice, Inbred C57BL
Mutation
Niemann-Pick Diseases
Sphingomyelin Phosphodiesterase

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