Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.

Sharp, A M

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. [electronic resource] - Journal of medical genetics Apr 2005 - 336-49 p. digital

Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

1468-6244

10.1136/jmg.2004.024489 doi


Cohort Studies
DNA Mutational Analysis--methods
Evaluation Studies as Topic
Female
Fetus--metabolism
Genetic Testing--methods
Genetic Variation
Genotype
Humans
Mutation
Phenotype
Polycystic Kidney, Autosomal Recessive--blood
Polymorphism, Single Nucleotide--genetics
Pregnancy
Receptors, Cell Surface--analysis