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Linkage of Niemann-Pick disease type C to human chromosome 18.

We analyzed the involvement of chromosome 18 in Niemann-Pick disease type C (NPC), an autosomal recessive cholesterol-processing disorder. Within affected offspring, the chromosome 18 parental contributions were identified by using allele-specific microsatellite markers. Significant linkage of NPC t...

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Udgivet i:Proc Natl Acad Sci U S A
Principais autores: Carstea, E D, Polymeropoulos, M H, Parker, C C, Detera-Wadleigh, S D, O'Neill, R R, Patterson, M C, Goldin, E, Xiao, H, Straub, R E, Vanier, M T
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 1993
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC46008/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8446622/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.90.5.2002
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