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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Autors principals: 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
Idioma:Inglês
Publicat: 1993
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC46008/
https://ncbi.nlm.nih.gov/pubmed/8446622
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