Identification of a New Gene Locus for Adolescent Nephronophthisis, on Chromosome 3q22 in a Large Venezuelan Pedigree

Nephronophthisis, an autosomal-recessive cystic kidney disease, is the most frequent monogenic cause for renal failure in childhood. Infantile and juvenile forms of nephronophthisis are known to originate from separate gene loci. We describe here a new disease form, adolescent nephronophthisis, that...

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Main Authors: Omran, Heymut, Fernandez, Carmen, Jung, Martin, Häffner, Karsten, Fargier, Bernardo, Villaquiran, Aminta, Waldherr, Rüdiger, Gretz, Norbert, Brandis, Matthias, Rüschendorf, Franz, Reis, André, Hildebrandt, Friedhelm
Formáid: Artigo
Teanga:Inglês
Foilsithe: The American Society of Human Genetics 2000
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Articles
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1360127/
https://ncbi.nlm.nih.gov/pubmed/10631142
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