Article
Limiting the Niemann-Pick type C critical region to a 1-cM interval.
Clinical and investigative medicine. Medecine clinique et experimentale - 1 Oct 1997
Gillan T L, Byers D M, Riddell D C, Neumann P E, Greer W L
Abstract excerpt
OBJECTIVE: To refine the position of and isolate the gene responsible for Niemann-Pick Type II (NP Type II) disease, an autosomal, recessive neurodegenerative disorder usually affecting children. The underlying biochemical defect results in an impairment in transport of intracellular cholesterol. This disease has been classified into two subtypes, NPC and NPD. NPD and the major complementation group of NPC both...
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