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Fig. 4 | Orphanet Journal of Rare Diseases

Fig. 4

From: Clinical and genetic analysis of two Chinese families with vitamin D-dependent rickets type IA and follow-up

Fig. 4

Genetic study of family 2. a Family pedigree. Patient 2 is the proband (IV1) of family 2. b Sequence analysis of human CYP27B1 gene in patient 2 and her pedigree members. Representative sequence electropherograms are shown. A seven-nucleotide duplication in exon 8 (c.1319_1325dupCCCACCC, p.Phe443Profs * 24) was presented in patient 2 and her father, mother, grandmother, maternal grandmother and Great-grandfather (I 1). Patient 2 was homozygous, others were heterozygous

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