High prevalence of carriers of variant c.1528G>C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North Poland

BACKGROUND/OBJECTIVES: The mitochondrial β-oxidation of fatty acids is a complex catabolic pathway. One of the enzymes of this pathway is the heterooctameric mitochondrial trifunctional protein (MTP), composed of four α- and β-subunits. Mutations in MTP genes (HADHA and HADHB), both located on chrom...

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Detalles Bibliográficos
Autores principales: Nedoszytko, Bogusław, Siemińska, Alicja, Strapagiel, Dominik, Dąbrowski, Sławomir, Słomka, Marcin, Sobalska-Kwapis, Marta, Marciniak, Błażej, Wierzba, Jolanta, Skokowski, Jarosław, Fijałkowski, Marcin, Nowicki, Roman, Kalinowski, Leszek
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5667839/
https://www.ncbi.nlm.nih.gov/pubmed/29095929
http://dx.doi.org/10.1371/journal.pone.0187365

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5667839/
https://www.ncbi.nlm.nih.gov/pubmed/29095929
http://dx.doi.org/10.1371/journal.pone.0187365

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