Literature for peptidase homologue M16.985: mitochondrial processing peptidase subunit alpha unit 2
(Topics flags: M Mutation. To select only the references relevant to a single topic, click the link above. See explanation.)
-
Bagabir,H.A., Abdulkareem,A.A., Muthaffar,O.Y., Shirah,B.H. and Naseer,M.I.
Clinical whole Exome Sequencing Reveals Novel Homozygous Missense Variant in the PMPCA Gene causing Autosomal Recessive Spinocerebellar Ataxia
Pak J Med Sci (2024) 40, 2243-2250. PubMed Europe PubMed DOI PMC EPMC -
Jobling,R.K., Assoum,M., Gakh,O., Blaser,S., Raiman,J.A., Mignot,C., Roze,E., Durr,A., Brice,A., Levy,N., Prasad,C., Paton,T., Paterson,A.D., Roslin,N.M., Marshall,C.R., Desvignes,J.P., Roeckel-Trevisiol,N., Scherer,S.W., Rouleau,G.A., Megarbane,A., Isaya,G., Delague,V. and Yoon,G.
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia
Brain (2015) 138, 1505-1517. PubMed Europe PubMed DOI M
2024
2015
