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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Identification of a novel mutation in the KITLG gene in a Chinese family with familial progressive hyper- and hypopigmentation

Fig. 2

KITLG gene mutation analysis in two Chinese FPHH cases. a A novel mutation c.104A > T (p.Asn35Ile) was identified in family 1. The variation c.102 T > A (p.Thr34Thr) is a synonymous mutation. b A recurrent mutation c.101C > T (p.Thr34Ile) was identified in the sporadic case. c Sequence of the wild-type allele showing translation of the threonine residue at codon 34 (ACT) and asparagine at codon 35 (AAT)

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BMC Medical Genomics

ISSN: 1755-8794

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