Výsledky vyhledávání - "Leo Gj, Nijtmans"

Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive

Autor: Fabian, Baertling, Fathiya, Al-Murshedi, Laura, Sánchez-Caballero, Khalfan, Al-Senaidi, Niranjan P, Joshi, Hanka, Venselaar, Mariël Am, van den Brand, Leo Gj, Nijtmans, Richard Jt, Rodenburg

Publikováno v: Human mutation. 38(6)

COX5A is a nuclear-encoded subunit of mitochondrial respiratory chain complex IV (cytochrome c oxidase). We present patients with a homozygous pathogenic variant in the COX5A gene. Clinical details of two affected siblings suffering from early-onset

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1e3c85490f988def1d7c777b8d53e903
https://pubmed.ncbi.nlm.nih.gov/28247525

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