- 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 ...
Expand abstract - Publication status:
- Published
- 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
- Copyright date:
- 1999
Journal article
Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses.
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