Fig. 2From: Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case reporta Domains structure of HLCS protein. The novel frameshift mutation identified in the proband is indicated by a red arrow. b Conserved amino acid sequences of HLCS (amino acid 336, highlighted by a red box) and the predicted truncated HLCS caused by the frameshift mutation (c.1006_1007delGA) identified in this probandBack to article page