Nonsyndromic X-linked mental retardation: where are the missing mutations?
Trends Genet
; 19(6): 316-20, 2003 Jun.
Article
em En
| MEDLINE
| ID: mdl-12801724
ABSTRACT
Analysis of linkage intervals from 125 unrelated families with nonsyndromic X-linked mental retardation (NS-XLMR) has revealed that the respective gene defects are conspicuously clustered in defined regions of the human X-chromosome, with approximately 30% of all mutations being located on the proximal Xp. In 83% of these families, underlying gene defects are not yet known. Our observations should speed up the search for mutations that are still missing and pave the way for the molecular diagnosis of this common disorder.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos X
/
Deficiência Intelectual Ligada ao Cromossomo X
/
Ligação Genética
/
Mutação
Limite:
Humans
Idioma:
En
Ano de publicação:
2003
Tipo de documento:
Article