Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
Sharp
A M
AM
Messiaen
L M
LM
Page
G
G
Antignac
C
C
Gubler
M-C
MC
Onuchic
L F
LF
Somlo
S
S
Germino
G G
GG
Guay-Woodford
L M
LM
D015331:Cohort Studies; D004252:DNA Mutational Analysis / Q000379:methods*; D005069:Evaluation Studies as Topic; D005260:Female; D005333:Fetus / Q000378:metabolism; D005820:Genetic Testing / Q000379:methods*; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D009154:Mutation; D010641:Phenotype; D017044:Polycystic Kidney, Autosomal Recessive / Q000097:blood / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011247:Pregnancy; D011956:Receptors, Cell Surface / Q000032:analysis / Q000235:genetics*
C451750:PKHD1 protein, human; D011956:Receptors, Cell Surface