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A gene for hereditary multiple exostoses maps to chromosome 19p


Le Merrer, Marline; Legeai-Mallet, Laurence; Jeannin, Patricia Margaritte; Horsthemke, Bernhard; Schinzel, Albert; Plauchu, Henri; Toutain, Annick; Achard, Frédéric; Munnich, Arnold; Maroteaux, Pierre (1994). A gene for hereditary multiple exostoses maps to chromosome 19p. Human Molecular Genetics, 3(5):717-722.

Abstract

Hereditary multiple exostoses (EXT) is an autosomal dominant bony disorder characterized by the formation of cartilage-capped juxta-epiphyseal prominences on the long bones. Recently, a disease gene (EXT 1) has been mapped to chromosome 8q23-q24 by linkage analysis in informative families. Here, we report on the genetic mapping of a second locus (EXT 2) to the short arm of chromosome 19 by linkage to a microsatellite DNA marker at the D19S221 locus, which gives additional support to the view that EXT is a genetically heterogeneous condition.

Abstract

Hereditary multiple exostoses (EXT) is an autosomal dominant bony disorder characterized by the formation of cartilage-capped juxta-epiphyseal prominences on the long bones. Recently, a disease gene (EXT 1) has been mapped to chromosome 8q23-q24 by linkage analysis in informative families. Here, we report on the genetic mapping of a second locus (EXT 2) to the short arm of chromosome 19 by linkage to a microsatellite DNA marker at the D19S221 locus, which gives additional support to the view that EXT is a genetically heterogeneous condition.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Molecular Biology
Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics, Molecular Biology, General Medicine
Language:English
Date:1 January 1994
Deposited On:27 Sep 2023 15:19
Last Modified:29 Apr 2024 01:40
Publisher:Oxford University Press
ISSN:0964-6906
OA Status:Closed
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:https://doi.org/10.1093/hmg/3.5.717
PubMed ID:8081357
Other Identification Number:Corpus ID: 29634495