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. 1993 Mar 1;90(5):2002–2004. doi: 10.1073/pnas.90.5.2002

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

E D Carstea 1, M H Polymeropoulos 1, C C Parker 1, S D Detera-Wadleigh 1, R R O'Neill 1, M C Patterson 1, E Goldin 1, H Xiao 1, R E Straub 1, M T Vanier 1, et al.
PMCID: PMC46008  PMID: 8446622

Abstract

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 to an 18p genomic marker, D18S40, was indicated by a two-point lod score of 3.84. Analysis of meiotic chromosomal breakpoint patterns among the affected individuals indicated that the NPC gene is pericentromerically localized on human chromosome 18.

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2002

Selected References

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