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Titolo:
Identification of eight novel 5 '-exons in cerebral capillary malformationgene-1 (CCM1) encoding KRIT1
Autore:
Eerola, I; McIntyre, B; Vikkula, M;
Indirizzi:
Christian Duve Inst Cellular Pathol, Lab Human Mol Genet, B-1200 Brussels,Belgium Christian Duve Inst Cellular Pathol Brussels Belgium B-1200 sels,Belgium Univ Catholique Louvain, B-1200 Brussels, Belgium Univ Catholique LouvainBrussels Belgium B-1200 B-1200 Brussels, Belgium
Titolo Testata:
BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION
fascicolo: 3, volume: 1517, anno: 2001,
pagine: 464 - 467
SICI:
0167-4781(20010216)1517:3<464:IOEN5'>2.0.ZU;2-W
Fonte:
ISI
Lingua:
ENG
Soggetto:
CAVERNOUS MALFORMATIONS; ANKYRIN REPEAT; MUTATIONS; PROTEINS; ANGIOMAS;
Keywords:
KRIT1; CCM1; gene structure; alternative splicing; cerebral capillary malformation; vascular malformation;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
14
Recensione:
Indirizzi per estratti:
Indirizzo: Eerola, I Christian Duve Inst Cellular Pathol, Lab Human Mol Genet, Ave Hippocrate 75 4, B-1200 Brussels, Belgium Christian Duve Inst Cellular PatholAve Hippocrate 75 4 Brussels Belgium B-1200
Citazione:
I. Eerola et al., "Identification of eight novel 5 '-exons in cerebral capillary malformationgene-1 (CCM1) encoding KRIT1", BBA-GENE ST, 1517(3), 2001, pp. 464-467

Abstract

Truncating mutations in the CCM1 gene encoding KRIT1 were recently found in patients affected by inherited cerebral capillary malformations, lesions that cause a wide variety of neurologic problems. However. CCM1 mutations have not been identified in all the families linked to CCM1. Here we demonstrate that the CCMI gene contains right additional exons which may thus encompass the missing mutations. (C) 2001 Elsevier Science B.V. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/12/20 alle ore 13:23:10