Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. [electronic resource]
Producer: 20060803Description: 336-49 p. digitalISSN:- 1468-6244
- 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
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Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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