Cockayne syndrome
rare and fatal autosomal recessive neurodegenerative disorder
mille alamklass
autosomal recessive disease[4]
eye degenerative disease[5]
nervous system heredodegenerative disease[5]
nimetatud ... järgi
Edward Alfred Cockayne
external data available at URL
Wikimedia projekti fookusnimekiri
ICD-9-CM
759.89[5]
NCI Thesaurus ID
C9460[4]
täpne vaste
Commonsi kategooria
Cockayne syndrome
Viited
- ↑ Freebase Data Dumps, 28. oktoober 2013
- ↑ Monarch Disease Ontology release 2018-06-29, MONDO_0016006, 3. juuli 2018
- ↑ Quora
- ↑ 4,00 4,01 4,02 4,03 4,04 4,05 4,06 4,07 4,08 4,09 4,10 4,11 4,12 Disease Ontology, 15. mai 2019, DOID:2962
- ↑ 5,0 5,1 5,2 5,3 Monarch Disease Ontology release 2018-06-29, 3. juuli 2018, MONDO_0016006
- ↑ OpenAlex, 26. jaanuar 2022, https://docs.openalex.org/download-snapshot/snapshot-data-format
- ↑ 7,0 7,1 https://ddrare.nibiohn.go.jp/, 17. mai 2019
- ↑ Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy
- ↑ Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.
- ↑ Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome
- ↑ First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure
- ↑ Retracted: A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function
- ↑ The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH
- ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000049167/MONDO_0016006, inferred from an Open Targets association score over 0.7
- ↑ Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233