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Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
- Source :
-
Journal of medical genetics [J Med Genet] 2005 Apr; Vol. 42 (4), pp. 336-49. - Publication Year :
- 2005
- Subjects :
- Evaluation Studies as Topic
Female
Fetus metabolism
Genetic Variation
Genotype
Humans
Phenotype
Polycystic Kidney, Autosomal Recessive blood
Polymorphism, Single Nucleotide genetics
Pregnancy
Receptors, Cell Surface analysis
Cohort Studies
DNA Mutational Analysis methods
Genetic Testing methods
Mutation
Polycystic Kidney, Autosomal Recessive genetics
Receptors, Cell Surface genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1468-6244
- Volume :
- 42
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Journal of medical genetics
- Publication Type :
- Report
- Accession number :
- 15805161
- Full Text :
- https://doi.org/10.1136/jmg.2004.024489