Work

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

Year: 1993

Type: article

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.

Source: Proceedings of the National Academy of Sciences

DOI: 10.1073/pnas.90.5.2002

Authors: E D Carstea, M H Polymeropoulos, C C Parker, S D Detera-Wadleigh, R R O'Neill, M C Patterson, E Goldin, H Xiao, R E Straub, M T Vanier

Institutions: National Institutes of Health, National Institute of Neurological Disorders and Stroke

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W2153082254

FWCI: 3.998

Cites: 22

Cited by: 119

Related to: 10