Portal de investigación
Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes.
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- Kok K
- Cigudosa JC
Abstract
Mental retardation can be caused by copy number variations (deletions, insertions, duplications), ranging in size from 1 kb to several megabases. Array based comparative genomic hybridisation (array-CGH) allows detection of an increasing number of genomic alterations.
Datos de la publicación
- ISSN/ISSNe:
- 0022-2593, 1468-6244
- Tipo:
- Article
- Páginas:
- 432-437
- PubMed:
- 18413373
- Factor de Impacto:
- 2,973 SCImago ℠
- Cuartil:
- Q1 SCImago ℠
JOURNAL OF MEDICAL GENETICS BMJ PUBLISHING GROUP
Citas Recibidas en Web of Science: 45
Documentos
- No hay documentos
Filiaciones
Cita
MONFORT S,ROSELLÓ M,ORELLANA C,OLTRA S,BLESA D,Kok K,FERRER I,Cigudosa JC,MARTÍNEZ F. Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes. J Med Genet. 2008. 45. (7):p. 432-437. IF:5,000. (1).