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Fig. 1 | BMC Medical Genetics

Fig. 1

From: A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature

Fig. 1

Pedigree and segregation analysis of the SLC29A3 gene mutation (c.307-308delTT). All four patients (III.2, III.5, III.8, and III.11) are homozygote mutants, whereas parents of proband (II.1 and II.2) are heterozygote. Furthermore, sequence analysis of the three normal siblings of the patients in two families revealed that two of them (III.1 and III.6) are heterozygote and one (III-9) is normal

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BMC Medical Genetics

ISSN: 1471-2350

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