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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Phenotype and genotype of FXIII deficiency in two unrelated probands: identification of a novel F13A1 large deletion mediated by complex rearrangement

Fig. 3

Phenotype and genotype results of pedigree 2 with severe type 1 FXIIIA deficiency. a Segregation analysis of pedigree 2; b Compound heterozygous mutations (p.Arg716Gly and Del Ex 7–8) of F13A1 in proband 2. Del Ex 7–8, the F13A1 large deletion from exon 7 through exon 8; A-E7–1 and A-E7–2, two fragments located in exon 7 of F13A1; A-E8–1 and A-E8–2, two fragments located in exon 8 of F13A1; CNV, copy number variation

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172