☆ 4.4 Article

Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer

MOLECULAR GENETICS AND METABOLISM (2008)

Journal

MOLECULAR GENETICS AND METABOLISM

Volume 93, Issue 3, Pages 323-330

Publisher

ACADEMIC PRESS INC ELSEVIER SCIENCE

DOI: 10.1016/j.ymgme.2007.09.020

Keywords

pyruvate dehydrogenase; pyruvate dehydrogenase deficiency; PDHA1 gene; somatic mosaicism; synonymous mutations; aberrant splicing; SRp55 binding

Categories

Endocrinology & Metabolism Genetics & Heredity Medicine, Research & Experimental

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