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PMID: 3107130 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17.

Science (New York, N.Y.) ·Vol. 236 ·No. 4805 ·1987-05-29 ·Pages 1100-2

Barker D, Wright E, Nguyen K, Cannon L, Fain P, Goldgar D, Bishop DT, Carey J, Baty B, Kivlin J

Abstract

Linkage analysis of 15 Utah kindreds demonstrated that a gene responsible for von Recklinghausen neurofibromatosis (NF) is located near the centromere on chromosome 17. The families also gave no evidence for heterogeneity, indicating that a significant proportion of NF cases are due to mutations at a single locus. Further genetic analysis can now refine this localization and may lead to the eventual identification and cloning of the defective gene responsible for this disorder.

MeSH Terms
Centromere Chromosome Mapping Chromosomes, Human, Pair 17/ultrastructure DNA, Recombinant Female Genes Genetic Linkage Humans Male Neurofibromatosis 1/genetics Nucleic Acid Hybridization
Chemicals
DNA, Recombinant
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Barker D
Wright E
Nguyen K
Cannon L
Fain P
Goldgar D
Bishop D T
Carey J
Baty B
Kivlin J
Article Info
Journal
Science (New York, N.Y.)
Abbr.
Science
ISSN
0036-8075
Published
1987-05-29
Pages
1100-2
Language
English
Region
United States
NLM ID
0404511
Subset
IM
Grants
NCI NIH HHS · CA 28854 · United States
NCI NIH HHS · CA 36362 · United States
NIGMS NIH HHS · GM 29090 · United States
Analysis Services
Analysis Services

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