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Fig. 2 | BMC Medical Genomics

Fig. 2

From: A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report

Fig. 2

a Sequencing analysis revealed a heterozygous c.1385T > A transition in exon 7 of KRT6A in the proband’s genomic DNA from blood. b Sequencing analysis revealed a heterozygous c.1385T > A transition in exon 7 of KRT6A in his sister’s DNA from blood. c, d The sequence of DNA derived from the parents’ blood, e–f hair bulbs and g, h buccal smears was wild-type. i No mutation was identified in father’s sperm cells

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BMC Medical Genomics

ISSN: 1755-8794

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