Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease.
Michel-Calemard
L
L
Laboratoire
Dijoud
F
F
Till
M
M
Lambert
J C
JC
Vercherat
M
M
Tardy
V
V
Coubes
C
C
Morel
Y
Y
D000328:Adult; D001483:Base Sequence; D005091:Exons / Q000235:genetics*; D005260:Female; D005602:France; D006801:Humans; D007223:Infant; D007438:Introns / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D017044:Polycystic Kidney, Autosomal Recessive / Q000235:genetics* / Q000473:pathology; D011956:Receptors, Cell Surface / Q000235:genetics*
C451750:PKHD1 protein, human; D011956:Receptors, Cell Surface