Hum Mutat
From Bioblast
| Journal title and website | Human Mutation |
|---|
Publications
| Reference | Published | View | |
|---|---|---|---|
| Correia 2021 Hum Mutat | Correia SP, Moedas MF, Naess K, Bruhn H, Maffezzini C, Calvo-Garrido J, Lesko N, Wibom R, Schober FA, Jemt A, Stranneheim H, Freyer C, Wedell A, Wredenberg A (2021) Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7. Hum Mutat 42:378-84. | 2021 | PMID: 33502047 Open Access |
| Wei 2020 Hum Mutat | Wei X, Du M, Li D, Wen S, Xie J, Li Y, Chen A, Zhang K, Xu P, Jia M, Wen C, Zhou H, Lyu J, Yang Y, Fang H (2020) Mutations in FASTKD2 are associated with mitochondrial disease with multi-OXPHOS deficiency. Hum Mutat 41:961-72. | 2020 | PMID: 31944455 |
| Cavadas 2015 Hum Mutat | Cavadas B, Soares P, Camacho R, Brandão A, Costa MD, Fernandes V, Pereira JB, Rito T, Samuels DC, Pereira L (2015) Fine time scaling of purifying selection on human nonsynonymous mtDNA mutations based on the worldwide population tree and mother-child pairs. Hum Mutat 36:1100-11. | 2015 | PMID: 26252938 Open Access |
| Gutierrez 2012 Hum Mutat | Gutiérrez Cortés N, Pertuiset C, Dumon E, Börlin M, Hebert-Chatelain E, Pierron D, Feldmann D, Jonard L, Marlin S, Letellier T, Rocher C (2012) Novel mitochondrial DNA mutations responsible for maternally inherited non-syndromic hearing loss. Hum Mutat 33:681-9 | 2012 | PMID: 22241583 |
Acronym: HM
