Journal article
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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Bibliographic Details
- Journal:
- Journal of human genetics
- Volume:
- 44
- Issue:
- 4
- Pages:
- 230-234
- Publication date:
- 1999-01-01
- DOI:
- EISSN:
-
1435-232X
- ISSN:
-
1434-5161
- Source identifiers:
-
37090
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:37090
- UUID:
-
uuid:caeeb491-f7dd-4fd1-aea1-15dccf6d05e6
- Local pid:
- pubs:37090
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 1999
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