Complementation studies in Niemann-Pick disease type C indicate the existence of a second group.

Author:

Steinberg S J,Ward C P,Fensom A H

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference15 articles.

1. A defect in cholesterol esterification in Niemann-Pick disease (type C) patients;Pentchev, P.G.; Comly, M.E.; Kruth, H.S.;Proc Natl Acad Sci USA,1985

2. Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing;Vanier, M.T.; Rodriguez-Lafrasse, C.; Rousson, R.;Biochim Biophys Acta,1991

3. Correction of sphingomyelinase deficiency in NiemannPick type C fibroblasts by removal of lipoprotein fraction from culture media;Thomas, G.H.; Tuck-Muller, C.M.; Miller, C.S.; Reynolds, L.W.;J Inher Metab Dis,1989

4. Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts;true;EMBO J,1989

5. Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients;Proc Natl Acad Sci USA,1991

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