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Titolo:
Fragile X syndrome at the turn of the century
Autore:
Kooy, RF; Willemsen, R; Oostra, BA;
Indirizzi:
Univ Instelling Antwerp, Dept Med Genet, B-2610 Antwerp, Belgium Univ Instelling Antwerp Antwerp Belgium B-2610 , B-2610 Antwerp, Belgium Erasmus Univ, CBG Dept Clin Genet, Rotterdam, Netherlands Erasmus Univ Rotterdam Netherlands t Clin Genet, Rotterdam, Netherlands
Titolo Testata:
MOLECULAR MEDICINE TODAY
fascicolo: 5, volume: 6, anno: 2000,
pagine: 193 - 198
SICI:
1357-4310(200005)6:5<193:FXSATT>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
MENTAL-RETARDATION PROTEIN; FMR1 KNOCKOUT MICE; FULL MUTATION; GENE; LOCALIZATION; ASSOCIATION; RIBOSOMES; NUCLEAR; DEMETHYLATION; REACTIVATION;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
45
Recensione:
Indirizzi per estratti:
Indirizzo: Kooy, RF Univ Instelling Antwerp, Dept Med Genet, Univ Pl 1, B-2610 Antwerp, Belgium Univ Instelling Antwerp Univ Pl 1 Antwerp Belgium B-2610 Belgium
Citazione:
R.F. Kooy et al., "Fragile X syndrome at the turn of the century", MOL MED TOD, 6(5), 2000, pp. 193-198

Abstract

Fragile X syndrome is not only the most common form of inherited cognitiveimpairment, it is also one of the most frequent single gene disorders. It is caused by a stretch of CGG-repeats within the fragile X gene, which increases in length as it is transmitted from generation to generation. Once the repeat exceeds a threshold length, no fragile X protein is produced and disease results. Since the mutation was discovered, nearly a decade of research has revealed a wealth of information regarding the fragile X gene and its possible function within the cell. The fragile X story also provides a sobering example of how much time and effort might be necessary to develop beneficial treatment through understanding gene function.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 31/05/20 alle ore 13:28:50