Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/34295
Type: Artigo de periódico
Title: Similar interstitial deletions of the KAL-1 gene in two Brazilian families with X-linked Kallmann Syndrome
Author: Trarbach, Ericka Barbosa
Monlleo, Isabella Lopes
Porciuncula, Carlos Guilherme Gaelzer
Fontes, Marshall Italo Barros
Baptista, Maria Teresa Mathias
Hackel, Christine
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.
Subject: X-linked KS
intragenic deletions
KAL-1 gene
PCR
phenotypic variability
Editor: Sociedade Brasileira de Genética
Rights: aberto
Identifier DOI: 10.1590/S1415-47572004000300006
Address: http://dx.doi.org/10.1590/S1415-47572004000300006
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000300006
Date Issue: 1-Jan-2004
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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