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Genetic analysis of patients and unaffected family members. a The novel heterozygous mutation site c.1765 T > A (black arrows) of patients in family 1 and b corresponding sequence in the other unaffected individuals. c The other mutation site c.1846A > G (black arrows) was identified in family 2 patients and d wild type site in unaffected family members. e Both of the substitution loci p.Phe589 and p.Lys616 were conserved in different species according to the UCSC database
