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| ALTERATION IN A NEW GENE ENCODING A PUTATIVE MEMBRANE-ORGANIZING PROTEIN CAUSES NEUROFIBROMATOSIS TYPE-2 |
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| Author(s): ROULEAU GA, MEREL P, LUTCHMAN M, SANSON M, ZUCMAN J, MARINEAU C, HOANGXUAN K, DEMCZUK S, DESMAZE C, PLOUGASTEL B, PULST SM, LENOIR G, BIJLSMA E, FASHOLD R, DUMANSKI J, DEJONG P, PARRY D, ELDRIGE R, AURIAS A, DELATTRE O, THOMAS G |
| Source: NATURE Volume: 363 Issue: 6429 Pages: 515-521 Published: JUN 10 1993 |
| Times Cited: 788 References: 43 |
| Abstract: Neurofibromatosis type 2 (NF2) is a monogenic dominantly inherited disease predisposing carriers to develop nervous system tumours. To identify the genetic defect, the region between two flanking polymorphic markers on chromosome 22 was cloned and several genes identified. One is the site of germ-line mutations in NF2 patients and of somatic mutations in NF2-related tumours. Its deduced product has homology with proteins at the plasma membrane and cytoskeleton interface, a previously unknown site of action of tumour suppressor genes in humans. |
| Document Type: Article |
| Language: English |
| Reprint Address: ROULEAU, GA (reprint author), MCGILL UNIV, CTR RECH NEUROSCI, MONTREAL H3A 2T5, QUEBEC CANADA |
Addresses:
1. MONTREAL GEN HOSP, RES INST, MONTREAL H3G 1A4, QUEBEC CANADA
2. INST CURIE, GENET TUMEURS LAB, INSERM, CJF 9201, F-75231 PARIS 05, FRANCE
3. CEDARS SINAI MED CTR, NEUROGENET LAB, LOS ANGELES, CA 90048 USA
4. INT AGCY RES CANC, F-69372 LYON, FRANCE
5. UNIV AMSTERDAM, INST HUMAN GENET, 1105 AZ AMSTERDAM, NETHERLANDS
6. UNIV ERLANGEN NURNBERG, INST HUMAN GENET, W-8520 ERLANGEN, GERMANY
7. KAROLINSKA INST, DEPT CLIN GENET, S-10401 STOCKHOLM 60, SWEDEN
8. LAWRENCE LIVERMORE NATL LAB, CTR HUMAN GENOME, LIVERMORE, CA 94550 USA
9. NCI, CLIN EPIDEMIOL BRANCH, BETHESDA, MD 20892 USA |
| Publisher: MACMILLAN MAGAZINES LTD, PORTERS SOUTH, 4 CRINAN ST, LONDON, ENGLAND N1 9XW |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: LF939 |
| ISSN: 0028-0836 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |