SNP Array Screening and Long Range PCR-Based Targeted Next Generation Sequencing for Autosomal Recessive Disease with Consanguinity: Insight from a Case of Xeroderma Pigmentosum Group C

Fumie Nomura, Akira Shimizu, Sumihito Togi, Hiroki Ura, Yo Niida

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Biochemistry, Genetics and Molecular Biology

Medicine and Dentistry