Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis - Concepedia

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Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis

DOI Full Paper Access

39

Citations

39

References

2016

Year

Salvatore Melchionda, Teresa Palladino, Stefano Castellana, Mario Giordano, Elisa Benetti, Patrizia De Bonis, Leopoldo Zelante, Luigi Bisceglia

Journal of Human Genetics

Allelic VariantGenetic DisorderMedicineGeneticsNext-generation SequencingMolecular BiologyMolecular GeneticsNovel Pkhd1 MutationsDisease Gene IdentificationGenomicsSanger SequencingMolecular DiagnosticsBioinformaticsMutation SpectrumVariant Interpretation

References

	Year	Citations

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