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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1

Fig. 1

Pedigree and the FAH sequencing results a pedigree of the family. Half-filled symbols represented the variant carrier; Arrow indicated the proband. b The sequencing results of the family. The rectangular symbol indicated the variant site. c Illustrations of the proband sequencing results of cDNA TA cloning products. The top one indicated the c.914-1G>A led to a 1 bp deletion; the below one indicated the c.914-1G>A led to skipping of the entire exon 11

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BMC Medical Genomics

ISSN: 1755-8794

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