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Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.

Abstract:

Hereditary multiple exostoses (HME), the most frequent of all skeletal dysplasias, is an autosomal dominant disorder characterized by the presence of multiple exostoses localized mainly at the end of long bones. HME is genetically heterogeneous, with at least three loci, on 8q24.1 (EXT1), 11p11-p13 (EXT2), and 19p (EXT3). Both the EXT1 and EXT2 genes have been cloned recently and define a new family of potential tumor suppressor genes. This is the first study in which mutation screening has b...

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Publication status:
Published

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Publisher copy:
10.1086/515505

Authors


Philippe, C More by this author
Porter, DE More by this author
Emerton, ME More by this author
Simpson, AH More by this author
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Journal:
American journal of human genetics
Volume:
61
Issue:
3
Pages:
520-528
Publication date:
1997-09-05
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:8936c8a1-0b0d-4163-b3ed-eff3b347dbf8
Source identifiers:
36099
Local pid:
pubs:36099

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