TY  - GEN
AU  - Sharp,A M
AU  - Messiaen,L M
AU  - Page,G
AU  - Antignac,C
AU  - Gubler,M-C
AU  - Onuchic,L F
AU  - Somlo,S
AU  - Germino,G G
AU  - Guay-Woodford,L M
TI  - Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts
SN  - 1468-6244
PY  - 2006///0803
KW  - Cohort Studies
KW  - DNA Mutational Analysis
KW  - methods
KW  - Evaluation Studies as Topic
KW  - Female
KW  - Fetus
KW  - metabolism
KW  - Genetic Testing
KW  - Genetic Variation
KW  - Genotype
KW  - Humans
KW  - Mutation
KW  - Phenotype
KW  - Polycystic Kidney, Autosomal Recessive
KW  - blood
KW  - Polymorphism, Single Nucleotide
KW  - genetics
KW  - Pregnancy
KW  - Receptors, Cell Surface
KW  - analysis
N1  - Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1136/jmg.2004.024489
ER  -