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Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses.

Abstract:

Hereditary multiple exostoses (EXT) is an autosomal dominantly inherited disease characterized by the formation of cartilage-capped prominences (exostoses) that develop from the juxtaepiphyseal regions of the long bones. Recently, EXT1 and EXT2 genes were cloned and germline mutations of EXT1 and EXT2 were identified in EXT families. In this study, we performed a mutational analysis of EXT1 and EXT2 genes in eight unrelated Korean EXT families by polymerase chain reaction (PCR)-single strand ...

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Publication status:
Published

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Publisher copy:
10.1007/s100380050149

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Journal:
Journal of human genetics
Volume:
44
Issue:
4
Pages:
230-234
Publication date:
1999
DOI:
EISSN:
1435-232X
ISSN:
1434-5161
URN:
uuid:caeeb491-f7dd-4fd1-aea1-15dccf6d05e6
Source identifiers:
37090
Local pid:
pubs:37090

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