Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
BIOMEDICAL ADVANCES IN DEVELOPMENTAL-PSYCHOLOGY - THE CASE OF FRAGILE-X SYNDROME
Autore:
HAGERMAN RJ;
Indirizzi:
CHILDRENS HOSP,CHILD DEV UNIT,B140,1056 E 19TH AVE DENVER CO 80218 UNIV COLORADO,HLTH SCI CTR BOULDER CO 80309
Titolo Testata:
Developmental psychology
fascicolo: 3, volume: 32, anno: 1996,
pagine: 416 - 424
SICI:
0012-1649(1996)32:3<416:BAID-T>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
MENTAL-RETARDATION; FEMALE CARRIERS; FULL MUTATION; FMR-1 GENE; COGNITIVE PROFILES; FRA(X) SYNDROME; CGG REPEAT; AUTISM; MALES; SITE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Physical, Chemical & Earth Sciences
Citazioni:
96
Recensione:
Indirizzi per estratti:
Citazione:
R.J. Hagerman, "BIOMEDICAL ADVANCES IN DEVELOPMENTAL-PSYCHOLOGY - THE CASE OF FRAGILE-X SYNDROME", Developmental psychology, 32(3), 1996, pp. 416-424

Abstract

Fragile X syndrome, the most common inherited cause of mental retardation, is caused by an abnormal gene on the bottom end of the X chromosome. Discovered and sequenced in 1991, it is called the Fragile X Mental Retardation-1 (FMR-1) gene. Mutations in the FMR-1 gene include small expansions with a CGG (a specific sequence of the nucleotides) repetitive sequence that repeats from 50 to 200 times (the premutation) and the full mutation that involves a CGG repeat sequence that is greater than 200. In the full mutation, the FMR-1 gene is usually methylated, turning off the gene so that no protein is produced. Mutations within the FMR-1 gene can cause a spectrum of learning difficulties rangingfrom mild problems to severe mental retardation.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/04/20 alle ore 07:57:47