Diagnosis of mosaic mutations in the MEN1 gene by next generation sequencing

in European Journal of Endocrinology
Correspondence should be addressed to A Tabarin; Email: antoine.tabarin@chu-bordeaux.fr

(A Tabarin and M-F Odou contributed equally to the study)

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    Genetic analysis in case n°2. (A) MEN1 Sanger sequencing of the proband: c.794G>A p.(Trp265*) heterozygous. (B) MEN1 Sanger sequencing of the father: no sequence variation detected. (C) MEN1 NGS sequencing of the father: mosaicism at the level of 6% of mutated alleles for c.794G>A p.(Trp265*). (D) Detail of the reads obtained by NGS.

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