Article
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Molecular genetics and metabolism - 1 Feb 2010
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
Abstract excerpt
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 encode a 4074 amino acid protein called fibrocystin or polyductin. The phenotypes caused by PKHD1 mutations are...
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