The KAL1 pVal610Ile mutation is a recessive mutation causing Kallmann syndrome
Author:
Publisher
Elsevier BV
Subject
Obstetrics and Gynaecology,Reproductive Medicine
Reference19 articles.
1. The genetic aspects of primary eunuchoidism;Kallmann;Am J Ment Defic,1944
2. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules;Franco;Nature,1991
3. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules;Legouis;Cell,1991
4. Clinical assessment and genomic landscape of a consanguineous family with three Kallmann syndrome descendants;Zhang;Asian J Androl,2011
5. Fast and sensitive silver staining of DNA in polyacrylamide gels;Bassam;Anal Biochem,1991
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3. Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the “-Omics” Era;Endocrine Reviews;2015-12-01
4. A novel nonsense mutation of the KAL1 gene (p.Trp204*) in Kallmann syndrome;The Application of Clinical Genetics;2014-09
5. Genetic and molecular diagnostics of male infertility in the clinical practice;Frontiers in Bioscience;2014
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