Niemann-Pick Disease Type C: Spectrum of HE1 Mutations and Genotype/Phenotype Correlations in the NPC2 Group-Reference-Cited by-同舟云学术

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Niemann-Pick Disease Type C: Spectrum of HE1 Mutations and Genotype/Phenotype Correlations in the NPC2 Group

Published:2001-11 Issue:5 Volume:69 Page:1013-1021
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Millat Gilles,Chikh Karim,Naureckiene Saule,Sleat David E.,Fensom Anthony H.,Higaki Katsumi,Elleder Milan,Lobel Peter,Vanier Marie T.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference41 articles.

1. Cholesterol transfer proteins from ram cauda epidydimal and seminal plasma;Baker;Biol Reprod Suppl,1993

2. Intracellular cholesterol trafficking: role of the NPC1 protein;Blanchette-Mackie;Biochim Biophys Acta,2000

3. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis;Carstea;Science,1997

4. The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10 kb C→T mutation;Chiba-Falek;Genomics,1998

5. Deficient ferritin immunoreactivity in tissues from Niemann-Pick type C patients: extension of findings to fetal tissues, H and L ferritin isoforms, but also one case of the rare Niemann-Pick C2 complementation group;Christomanou;Mol Genet Metab,2000

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4. Challenges in the Definitive Diagnosis of Niemann–Pick Type C—Leaky Variants and Alternative Transcripts;Genes;2023-10-25

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