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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Non-syndromic cardiac progeria in a patient with the rare pathogenic p.Asp300Asn variant in the LMNA gene

Fig. 1

Identification of p.Asp300Asn Mutation in the LMNA Gene. a Pedigree of the proband containing the phenotypic data. Square box and circle represent male and female members respectively. Full circle indicates an affected member. The / symbol indicates a deceased individual. b Electrophoregrams showing the presence of the mutation in the sense and anti-sense directions. c Evolutionary conservation of the Asp300 amino acid across several species. d The change in the structure of the involved amino acid from a hydroxyl group to an amine group. e Location of the p.Asp300Asn mutation in the LMNA protein, which is the site of LMNA dimerization

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BMC Medical Genetics

ISSN: 1471-2350

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