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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report

Fig. 1

a Pedigree of the family. The black arrow denotes the proband. b-e Validation of the HLCS and BTD gene mutations by Sanger sequencing. Heterozygous mutations c.1522C > T, c.1006_1007delGA and c.638_642delAACAC were identified in the proband (ǁ:2), separately inherited from his father (І:1) and mother (І:2), his older sister (ǁ:1) has the same mutations with the father (the variant is indicated by a red arrow)

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BMC Medical Genetics

ISSN: 1471-2350

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