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Mutation Detection of PKD1 Identifies a Novel Mutation Common to Three Families with Aneurysms and/or Very-Early-Onset Disease

It is known that several of the most severe complications of autosomal-dominant polycystic kidney disease, such as intracranial aneurysms, cluster in families. There have been no studies reported to date, however, that have attempted to correlate severely affected pedigrees with a particular genotyp...

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Detalhes bibliográficos
Main Authors: Watnick, Terry, Phakdeekitcharoen, Bunyong, Johnson, Ann, Gandolph, Michael, Wang, Mei, Briefel, Gary, Klinger, Katherine W., Kimberling, William, Gabow, Patricia, Germino, Gregory G.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 1999
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288366/
https://ncbi.nlm.nih.gov/pubmed/10577909
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