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Master Thesis

Identification du variant c.773G>A (Val245Met) dans l’exon 2 de MATN3 à partir d’une famille atteinte de dysplasie épiphysaire multiple

Abstract : A family study based on an index case and its 23 relatives, with a clinical and radiographic presentation suggestive of polyepiphyseal dysplasia allowed the identification of a variant of unknown significance c.733G>A p. Val245M and exon 2 of MATN3 by a Next Generation Sequencing and Sanger technique. This variant was found in the index case and two symptomatic relatives.
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Master Thesis
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https://dumas.ccsd.cnrs.fr/dumas-03420603
Contributor : Université Paris Descartes - Scd Connect in order to contact the contributor
Submitted on : Tuesday, November 9, 2021 - 11:43:12 AM
Last modification on : Wednesday, January 5, 2022 - 3:09:10 AM

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  • HAL Id : dumas-03420603, version 1

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Marie Binvignat. Identification du variant c.773G>A (Val245Met) dans l’exon 2 de MATN3 à partir d’une famille atteinte de dysplasie épiphysaire multiple. Médecine humaine et pathologie. 2020. ⟨dumas-03420603⟩

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