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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Identification of a novel compound heterozygous mutation and a homozygous mutation of SLURP1 in Chinese families with Mal de Meleda

Fig. 2

Missense mutations of SLURP1. a P1(II-1): a compound heterozygous mutation c.243C > A, c.256G > A. P1 father (I-1): a heterozygous mutation c.243C > A. P1 mother (I-2): a heterozygous mutation c.256G > A. b P2 (IV-2): a homozygous mutation c.211C > T. P2 father (III-1): a heterozygous mutation c.211C > T. P2 mother (III-2): a heterozygous mutation c.211C > T. Normal human control for mutations were shown

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BMC Medical Genomics

ISSN: 1755-8794

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