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Figure 2 | BMC Medical Genetics

Figure 2

From: A novel HSF4gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan

Figure 2

Results of sequence analysis of exon 11 of the HSF4 gene. A homozygous C > T transition was found at nucleotide 1213 (according to Genbank entry NM_001040667.2 encoding isoform B) in the affected individual (IV:4), predicted to change the amino acid arginine into a stop codon, while an unaffected family member (III:3) was homozygous for the WT-allele.

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BMC Medical Genetics

ISSN: 1471-2350

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