Similar interstitial deletions of the KAL-1 gene in two Brazilian families with X-linked Kallmann Syndrome
Genet. mol. biol
; 27(3): 337-341, Sept. 2004. ilus, tab
Article
en En
| LILACS
| ID: lil-366177
Biblioteca responsable:
BR26.1
ABSTRACT
Mutations in the KAL-1 gene localized at Xp22.3 have been shown to be responsible for the X-linked Kallmann syndrome (KS), a disorder characterized by the association of hypogonadotropic hypogonadism and anosmia. In this paper, we describe the investigation of two families with X-linked KS, in which similar interstitial deletions ning exons 5 to 10 of the KAL-1 gene were identified. The presence of interspersed repetitive DNA sequences within the KAL-1 gene might have predisposed to this type of mutation.
Texto completo:
1
Colección:
01-internacional
Base de datos:
LILACS
Asunto principal:
Síndrome de Kallmann
/
Eliminación de Gen
Límite:
Adult
/
Child
/
Female
/
Humans
/
Male
País/Región como asunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Genet. mol. biol
Asunto de la revista:
GENETICA
Año:
2004
Tipo del documento:
Article
/
Project document
País de afiliación:
Brasil
Pais de publicación:
Brasil