Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis
2016
Expanding the mutation spectrum in 130
probandswith ARPKD: identification of 62 novel PKHD1 mutations by
sanger sequencingand MLPA analysis
Keywords:
- Genomics
- Genetics
- Molecular biology
- Sanger sequencing
- Multiplex ligation-dependent probe amplification
- DNA Mutational Analysis
- Statistical genetics
- Genetic analysis
- Molecular genetics
- Mutation
- Biology
- Frameshift mutation
- Allelic heterogeneity
- Population
- Autosomal Recessive Polycystic Kidney Disease
- Genetic disorder
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Correction
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