Article
A new de novo mutation in a non-hot spot region at the DMD gene in a Mexican family.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2014
Luna-Angulo A B, Gómez-Díaz B, Escobar-Cedillo R E, Anaya-Segura M A, Estrada-Mena F J, López-Hernández L B
Abstract excerpt
In this report we present the analysis of a sporadic case of DMD and his family. In the present case, a deletion of exons 18-47 is presented which predicts abolition of the reading frame and is located between the well-known deletion hot spots of the DMD gene. This mutation was not previously reported in the Leiden database (LOVD). Both MLPA and segregation analysis with short tandem repeat markers elucidated the...
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