| First Author | Carstea ED | Year | 1993 |
| Journal | Proc Natl Acad Sci U S A | Volume | 90 |
| Issue | 5 | Pages | 2002-4 |
| PubMed ID | 8446622 | Mgi Jnum | J:4347 |
| Mgi Id | MGI:52842 | Doi | 10.1073/pnas.90.5.2002 |
| Citation | Carstea ED, et al. (1993) Linkage of Niemann-Pick disease type C to human chromosome 18. Proc Natl Acad Sci U S A 90(5):2002-4 |
| abstractText | 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. |
