Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Leo Gj, Nijtmans"'
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
https://pubmed.ncbi.nlm.nih.gov/28247525
Autor:
Baertling, Fabian, Al‐Murshedi, Fathiya, Sánchez‐Caballero, Laura, Al‐Senaidi, Khalfan, Joshi, Niranjan P, Venselaar, Hanka, den Brand, Mariël AM, Nijtmans, Leo GJ, Rodenburg, Richard JT
Publikováno v:
Human Mutation; Jun2017, Vol. 38 Issue 6, p692-703, 12p