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Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: Importance of genetic testing in the entire family

✍ Scribed by Ana-Barbara Garcia-Garcia; Carmen Ivorra; Sergio Martinez-Hervas; Sebastian Blesa; M. José Fuentes; Oscar Puig; Jose Javier Martín-de-Llano; Rafael Carmena; Jose T. Real; Felipe Javier Chaves


Book ID
118423759
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
648 KB
Volume
218
Category
Article
ISSN
0021-9150

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Polycystic kidney disease (PKD) is a common autosomal dominant genetic disorder caused by mutation in at least two different gene loci. The PKD1 gene has been localized on the short arm of chromosome 16. The location of a second genetic locus in the human genome is not yet known. A large PKD kindred