Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.
about
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the DanishA missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosisFirst reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failureDiseases associated with defective responses to DNA damageMammalian transcription-coupled excision repairA novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlationPhysiological consequences of defects in ERCC1-XPF DNA repair endonucleaseCockayne syndrome in adults: review with clinical and pathologic study of a new case.Cockayne syndrome group B cellular and biochemical functions.Cockayne syndrome and xeroderma pigmentosum.On the traces of XPD: cell cycle matters - untangling the genotype-phenotype relationship of XPD mutationsThe ERCC1 and ERCC4 (XPF) genes and gene productsHuman Cockayne syndrome B protein reciprocally communicates with mitochondrial proteins and promotes transcriptional elongation.A possible cranio-oro-facial phenotype in Cockayne syndrome.Do all of the neurologic diseases in patients with DNA repair gene mutations result from the accumulation of DNA damage?The involvement of DNA-damage and -repair defects in neurological dysfunctionMultiple interaction partners for Cockayne syndrome proteins: implications for genome and transcriptome maintenanceNucleic acid binding activity of human Cockayne syndrome B protein and identification of Ca(2+) as a novel metal cofactorThe many faces of Cockayne syndrome.Matters of life and death: the role of chromatin remodeling proteins in retinal neuron survivalGenetic disorders associated with postnatal microcephaly.Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex.Hereditary Disorders with Defective Repair of UV-Induced DNA Damage.Severe form of Cockayne syndrome with varying clinical presentation and no photosensitivity in a family.Cockayne syndrome in three sisters with varying clinical presentation.Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancyNovel frame shift mutation in ERCC6 leads to a severe form of Cockayne syndrome with postnatal growth failure and early death: A case report and brief literature review
P2860
Q24316006-3E5633F1-5851-48E9-AD14-201A9915C1C0Q24615964-1CC9FA8F-4D18-48E4-A8EE-C6BF27CAFEFFQ24680149-283CD8E5-364A-4F7F-9E10-7997DDE6527BQ26997852-E6241E9E-9915-4A45-B199-3F083646905EQ27022616-054DEB8E-634C-4CE5-BEFA-9314E95E49B7Q28237422-51A6A318-AEF8-4495-A7F4-EC130A6DF8F4Q28238547-C40C9673-EAA2-4B94-B542-26540FD2BB15Q31075490-4115489F-7750-45CF-8D6F-CCCF1FF95F36Q33905274-81B25E93-AF08-4ED6-90F3-874DEA89DCFCQ34143455-AE0FA5D5-EC06-46A2-B167-7B556D11F888Q34174006-97A8C571-0AA3-4442-B666-0C98E198E042Q35663361-19100288-497A-4EA4-BC62-B9A16568780AQ36280608-2B8FFB7D-9CAC-49F5-85A7-98CD98A7F330Q36689714-7A3A275C-F713-4F1E-A2BF-F5CF5450E420Q36690915-866B78C3-60AA-4D80-8E22-2EA41C7ED4BAQ36718848-F1FF6DD8-F41C-4136-9304-86C96FECC3A7Q36963083-EC0E4410-0E88-4C4A-9417-5C77957E1578Q37308518-77EA6F36-34E6-41C5-A693-528A29C8C0AEQ37593710-B78AE492-3F68-4BD5-8186-62B38E040AF4Q38071621-50276F02-53A7-4BDC-98FA-8AEC473C7F56Q38212652-02605F6B-5E9F-44A3-803A-4F4112A5FEE4Q39393194-3242EA7E-C5C6-43B1-A3B3-66C4C75D9747Q39622327-19839865-1E2A-4942-9904-76EBDD200DAEQ42152514-6BFADDD1-07C9-4C68-B988-48AB53B4941FQ48450367-AA999111-B74A-4D92-B77B-97B3E7635F6DQ48544061-000A05D5-7353-4479-BFFB-8F62308932E4Q55670525-26F4F9D0-69A8-4B4A-B9A7-3915033F4A73Q57753525-029D9226-8A09-46F3-AF12-D4A6DC21E30D
P2860
Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.
description
2000 nî lūn-bûn
@nan
2000 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի մարտին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Manitoba aboriginal kindred wi ...... e syndrome group B (CSB) gene.
@ast
Manitoba aboriginal kindred wi ...... e syndrome group B (CSB) gene.
@en
Manitoba aboriginal kindred wi ...... the Cockayne syndrome group B
@nl
type
label
Manitoba aboriginal kindred wi ...... e syndrome group B (CSB) gene.
@ast
Manitoba aboriginal kindred wi ...... e syndrome group B (CSB) gene.
@en
Manitoba aboriginal kindred wi ...... the Cockayne syndrome group B
@nl
prefLabel
Manitoba aboriginal kindred wi ...... e syndrome group B (CSB) gene.
@ast
Manitoba aboriginal kindred wi ...... e syndrome group B (CSB) gene.
@en
Manitoba aboriginal kindred wi ...... the Cockayne syndrome group B
@nl
P2093
P2860
P356
P1476
Manitoba aboriginal kindred wi ...... ne syndrome group B (CSB) gene
@en
P2093
A T Doughty
C R Greenberg
D M Coleman
D W Ziffer
E C Friedberg
I Savre-Train
J M Graham
P2860
P304
P356
10.1086/302867
P407
P577
2000-03-15T00:00:00Z