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| A GENE FOR HEREDITARY MULTIPLE EXOSTOSES MAPS TO CHROMOSOME 19P |
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| Author(s): LEMERRER M, LEGEAIMALLET L, JEANNIN PM, HORSTHEMKE B, SCHINZEL A, PLAUCHU H, TOUTAIN A, ACHARD F, MUNNICH A, MAROTEAUX P |
| Source: HUMAN MOLECULAR GENETICS Volume: 3 Issue: 5 Pages: 717-722 Published: MAY 1994 |
| Times Cited: 125 References: 16 |
| 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 additonal support to the view that EXT is a genetically heterogeneous condition. |
| Document Type: Article |
| Language: English |
| Reprint Address: LEMERRER, M (reprint author), HOP NECKER ENFANTS MALAD, UNITE RECH HANDICAPS GENET ENFANT, INSERM, U393, 149 RUE SIEVRES, F-75743 PARIS 15, FRANCE |
Addresses:
1. INSERM, U155, F-75016 PARIS, FRANCE
2. INST HUMAN GENET, D-45122 ESSEN, GERMANY
3. INST MED GENET, CH-8001 ZURICH, SWITZERLAND
4. HOP EDOUARD HERRIOT, F-69000 LYON, FRANCE
5. HOP CLOCHEVILLE, F-37000 TOURS, FRANCE
6. HOP NECKER ENFANTS MALAD, CNRS, URA 584, F-75743 PARIS 15, FRANCE |
| Publisher: OXFORD UNIV PRESS UNITED KINGDOM, WALTON ST JOURNALS DEPT, OXFORD, ENGLAND OX2 6DP |
| Subject Category: Biochemistry & Molecular Biology; Genetics & Heredity |
| IDS Number: NM099 |
| ISSN: 0964-6906 |
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