PKHD1 Sequence Variations in 78 Children and Adults with Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis

PKHD1, the gene mutated in autosomal recessive polycystic kidney disease (ARPKD)/Congenital hepatic fibrosis (CHF), is an exceptionally large and complicated gene that consists of 86 exons and has a number of alternatively spliced transcripts. Its longest open reading frame contains 67 exons that en...

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Autori principali: Gunay-Aygun, Meral, Tuchman, Maya, Font-Montgomery, Esperanza, Lukose, Linda, Edwards, Hailey, Garcia, Angelica, Ausavarat, Surasawadee, Ziegler, Shira G., Piwnica-Worms, Katie, Bryant, Joy, Bernardini, Isa, Fischer, Roxanne, Huizing, Marjan, Guay-Woodford, Lisa, Gahl, William A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2009
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2818513/
https://ncbi.nlm.nih.gov/pubmed/19914852
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2009.10.010
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