A novel variant in the COX15 gene causing a fatal infantile cardioencephalomyopathy: A case report with clinical and molecular review-Reference-Cited by-同舟云学术

A novel variant in the COX15 gene causing a fatal infantile cardioencephalomyopathy: A case report with clinical and molecular review

Published:2021-05 Issue:5 Volume:64 Page:104195
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Galvão de Oliveira Manuella,Tengan Célia,Micheletti Cecília,Ramos de Macedo Paloma,Soares Pinho Cernach Mirlene Cecília,Cavole Thiago Rodrigues^ORCID,de França Basto Marina^ORCID,Filho Joselito Sobreira,Virmond Luiza Amaral^ORCID,Milanezi Fernanda,Nakano Viviane,Falconi Ariane^ORCID,Perrone Eduardo

Funder

FAPESP

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference30 articles.

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2. Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early onset fatal hypertrophic cardiomyopathy;Antonicka;Am. J. Hum. Genet.,2003

3. NDUFA4 is a subunit of complex IV of the mammalian electron transport chain;Balsa;Cell Metabol.,2012

4. Mitochondrial ferredoxin is required for heme A synthesis in Saccharomyces cerevisiae;Barros;J. Biol. Chem.,2002

5. Regulation of the heme A biosynthetic pathway in Saccharomyces cerevisiae;Barros;FEBS Lett.,2002

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