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Titolo:
UPDATING THE FRAGILE-X SYNDROME
Autore:
BANARES VG;
Indirizzi:
INST NACL GENET MED,DEPT DIAGNOST GENET,AV LAS HERAS 2670,3ER PISO RA-1425 BUENOS AIRES DF ARGENTINA
Titolo Testata:
Medicina
fascicolo: 5, volume: 55, anno: 1995,
parte:, 1
pagine: 457 - 466
SICI:
0025-7680(1995)55:5<457:UTFS>2.0.ZU;2-B
Fonte:
ISI
Lingua:
SPA
Soggetto:
MENTAL-RETARDATION; CGG REPEAT; FMR-1 GENE; ABNORMAL METHYLATION; FOUNDER CHROMOSOMES; FULL MUTATION; UNSTABLE DNA; EXPRESSION; INSTABILITY; INHERITANCE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
59
Recensione:
Indirizzi per estratti:
Citazione:
V.G. Banares, "UPDATING THE FRAGILE-X SYNDROME", Medicina, 55(5), 1995, pp. 457-466

Abstract

The Fragile X syndrome is one of the most frequent forms of mental retardation. The responsible mutation is an unstable repetitive sequence. Since the mutation's discovery, the knowledge about the gene, its protein, function, expression, laboratory detection, phenotype-genotype relationship and risk of expansion, has enormously increased. This work pretends to review the recent advances in this syndrome in all its aspects.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/03/20 alle ore 12:07:37