期刊
GENETICS AND MOLECULAR BIOLOGY
卷 27, 期 3, 页码 337-341出版社
SOC BRASIL GENETICA
DOI: 10.1590/S1415-47572004000300006
关键词
X-linked KS; intragenic deletions; KAL-1 gene; PCR; phenotypic variability
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 spanning 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.
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