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| THE GENE FOR ACHONDROPLASIA MAPS TO THE TELOMERIC REGION OF CHROMOSOME 4P |
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| Author(s): VELINOV M, SLAUGENHAUPT SA, STOILOV I, SCOTT CI, GUSELLA JF, TSIPOURAS P |
| Source: NATURE GENETICS Volume: 6 Issue: 3 Pages: 314-317 Published: MAR 1994 |
| Times Cited: 70 References: 41 |
| Abstract: Achondroplasia is the most common type of genetic dwarfism. It is characterized by disproportionate short stature and other skeletal anomalies resulting from a defect in the maturation of the chondrocytes in the growth plate of the cartilage. We have now mapped the achondroplasia gene near the telomere of the short arm of chromosome 4 (4p16.3), by family linkage studies using 14 pedigrees. A positive lod score of z=3.35 with no recombinants was obtained with an intragenic marker for IDUA. This localization wilt facilitate the positional cloning of the disease gene. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV CONNECTICUT, CTR HLTH, DEPT PEDIAT, FARMINGTON, CT 06030 USA
2. MASSACHUSETTS GEN HOSP, MOLEC NEUROGENET UNIT, BOSTON, MA 02129 USA
3. HARVARD UNIV, SCH MED, DEPT GENET, BOSTON, MA USA
4. ALFRED I DUPONT INST, DIV MED GENET, WILMINGTON, DE 19899 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: MZ562 |
| ISSN: 1061-4036 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |