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A novel nonsense mutation of the KAL1 gene (p.Trp204*) in Kallmann syndrome

OBJECTIVE: To describe a novel KAL1 mutation in patients affected by Kallmann syndrome. SETTING: Endocrinology Clinic of the João de Barros Barreto University Hospital – Federal University of Pará, Brazil. METHODS: Clinical examination, hormone assays and sequencing of exons 5, 6 and 9 of the KAL1 g...

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Detalles Bibliográficos
Autores principales:	El Husny, Antonette Souto, Raiol-Moraes, Milene, Fernandes-Caldato, Milena Coelho, Ribeiro-dos-Santos, Ândrea
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Dove Medical Press 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4196791/ https://www.ncbi.nlm.nih.gov/pubmed/25328414 http://dx.doi.org/10.2147/TACG.S64280

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