Case Reports in Genetics / 2013 / Article / Fig 2

Case Report

A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome

Figure 2

Partial nucleotide sequence of the EFNB1 gene in DNA from patient (a), proband’s mother (b), and proband’s father (c). (a) A heterozygous T to C transition at nucleotide position c.473 in exon 3 predicting a methionine (ATG) to threonine (ACG) replacement at residue 158 (p.M158T) is shown. (b and c) Normal nucleotide (T) in both parents.

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