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Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism.

Familial juvenile nephronophthisis (NPH) is an autosomal recessive tubulointerstitial kidney disease associated with formation of medullary and corticomedullary cysts. It progresses to end stage renal failure and its biochemical defect is unknown. An NPH locus has been assigned to a 2 cM interval on...

Täydet tiedot

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Bibliografiset tiedot
Päätekijät: Ala-Mello, S, Sankila, E M, Koskimies, O, de la Chapelle, A, Kääriäinen, H
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 1998
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051273/
https://ncbi.nlm.nih.gov/pubmed/9598719
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