Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element

Article ID	Journal	Published Year	Pages	File Type
5906602	Gene	2013	4 Pages	PDF

Abstract

âº MLPA analysis should be included in the molecular study of Pompe disease. âº Alu repeats involved in complete deletion of GAA gene. âº MLPA analysis should be included in molecular study of Primary Ciliary Dyskinesia.

Keywords

MLPA GAA KBP array CGH array-Comparative Genomic Hybridization Pompe disease multiplex ligation-dependent probe amplification kilobase pairs deletion Polimerase Chain Reaction PCR

Related Topics

Life Sciences Biochemistry, Genetics and Molecular Biology Genetics

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Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element

Authors

Cinthia Amiñoso, Elena Vallespin, LuÃs Fernández, Luisa F. Arrabal, Lourdes R. Desviat, Belen Pérez, Fernando Santos, Jesús Solera,