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| PARTIAL SEQUENCE OF A CANDIDATE GENE FOR THE MARFAN-SYNDROME |
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| Author(s): MASLEN CL, CORSON GM, MADDOX BK, GLANVILLE RW, SAKAI LY |
| Source: NATURE Volume: 352 Issue: 6333 Pages: 334-337 Published: JUL 25 1991 |
| Times Cited: 237 References: 14 |
| Abstract: FIBRILLIN is a large (relative molecular mass 350,000) glycoprotein which can be isolated from fibroblast cell cultures and is a component of the microfibrils that are ubiquitous in the connective tissue space 1. The microfibrils of the suspensory ligament of the lens as well as the elastic fibre microfibrils of the blood vessel wall are composed of fibrillin. The ocular and cardiovascular manifestations of the Marfan syndrome are consistent with a defect in the gene coding for a structural constituent of these connective tissues. Immunohistological experiments have recently implicated fibrillin microfibrils in the pathogenesis of the Marfan syndrome 2. Genetic linkage data 3,4 localizing the Marfan gene to chromosome 15 and the in situ hybridization of fibrillin complementary DNA to 15q21.1 (ref. 5) together support fibrillin as a candidate Marfan gene. As a first step towards investigating the function of fibrillin in the architecture and development of connective tissues and its relationship to the Marfan syndrome, we report the cloning and partial sequencing of fibrillin cDNA. |
| Document Type: Article |
| Language: English |
Addresses:
1. SHRINERS HOSP CRIPPLED CHILDREN, 3101 SW SAM JACKSON PK RD, PORTLAND, OR 97201 USA
2. OREGON HLTH SCI UNIV, DEPT BIOCHEM & MOLEC BIOL, PORTLAND, OR 97201 USA |
| Publisher: MACMILLAN MAGAZINES LTD, 4 LITTLE ESSEX STREET, LONDON, ENGLAND WC2R 3LF |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: FY289 |
| ISSN: 0028-0836 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |