Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD)

Background: Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 (polycystic kidney and hepatic disease 1) gene on chromosome 6p12, a large gene spanning 470 kb of genomic DNA. So far, only micromutations in the 66 exons encoding the longest open reading frame (O...

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Bibliografiske detaljer
Main Authors: Bergmann, C, Kupper, F, Schmitt, C, Vester, U, Neuhaus, T, Senderek, J, Zerres, K
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Group 2005
Fag:
Online Mutation Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735935/
https://ncbi.nlm.nih.gov/pubmed/16199545
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.032318
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