[Localization of the gene defect in tuberous sclerosis]. / Lokalisatie van het gendefect bij tubereuze sclerosis.
Tijdschr Kindergeneeskd
; 57(5): 168-71, 1989 Oct.
Article
en Nl
| MEDLINE
| ID: mdl-2683203
ABSTRACT
Elucidation of the genetic defect in tuberous sclerosis (TS) awaits a precise chromosomal localization. At present two chromosomal regions, 9q34 and 11q23, are candidates for the site of a TS locus. Family studies using polymorphic DNA markers are carried out in other laboratories and in ours and are expected to disclose the existence of one TS gene that is localized on either chromosome 9 or 11, or the involvement of two genes, one on #9 and one on #11. Early postnatal and potentially prenatal diagnosis by means of DNA analysis may be offered to a family with TS after identification of the gene defect, but also after the identification of very closely linked DNA markers.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Esclerosis Tuberosa
/
Genes Reguladores
Límite:
Female
/
Humans
/
Male
Idioma:
Nl
Revista:
Tijdschr Kindergeneeskd
Año:
1989
Tipo del documento:
Article