Reactome | Christodoulou, J

Schema > Person > Entries

affiliation	[Affiliation:9640592] Murdoch Children's Research Institute
created	[InstanceEdit:5432556] May, Bruce, 2014-05-11
crossReference	[DatabaseIdentifier:9658531] ORCID:0000-0002-8431-0641
dbId	5432498
displayName	Christodoulou, J
firstname	John
initial	J
modified	[InstanceEdit:9658533] Orlic-Milacic, Marija, 2019-08-16
orcidId	0000-0002-8431-0641
publications	[URL:9615850] http://mecp2.chw.edu.au/ [LiteratureReference:9615846] RettBASE: Rett syndrome database update [LiteratureReference:9831596] Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency [LiteratureReference:9006581] Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype [LiteratureReference:5638214] Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin [LiteratureReference:5432420] Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation [LiteratureReference:9865895] Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression
schemaClass	Person
surname	Christodoulou

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