A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease
about
Genetic disorders coupled to ROS deficiencyRheumatoid arthritis: identifying and characterising polymorphisms using rat modelsHematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update)Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23p47phox, the phagocyte NADPH oxidase/NOX2 organizer: structure, phosphorylation and implication in diseasesVI. Genome structure and cognitive map of Williams syndrome.Heterogeneity of Human Neutrophil CD177 Expression Results from CD177P1 Pseudogene ConversionA copy number variation in human NCF1 and its pseudogenesDiabetes, renal and cardiovascular disease in p47 phox-/- chronic granulomatous disease.A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome.Comparative mapping of the region of human chromosome 7 deleted in williams syndrome.Functional pseudogenes inhibit the superoxide production.Inverted low-copy repeats and genome instability--a genome-wide analysisFunctional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.The human NADPH oxidase: primary and secondary defects impairing the respiratory burst function and the microbicidal ability of phagocytes.Copy number variation in autoimmunity--importance hidden in complexity?Ncf1 polymorphism reveals oxidative regulation of autoimmune chronic inflammation.CRISPR/Cas9-generated p47phox-deficient cell line for Chronic Granulomatous Disease gene therapy vector development.A missense variant in NCF1 is associated with susceptibility to multiple autoimmune diseases.Mutational mechanisms of Williams-Beuren syndrome deletions.Genetic polymorphisms and susceptibility to lung diseasePrenatal diagnosis in two families with autosomal, p47(phox)-deficient chronic granulomatous disease due to a novel point mutation in NCF1.NCF1 (p47phox) and ncf1 pseudogenes are not associated with inflammatory bowel disease.Rapid detection of intracellular p47phox and p67phox by flow cytometry; useful screening tests for chronic granulomatous disease.Genetical analysis of all Danish patients diagnosed with chronic granulomatous disease.Chronic Granulomatous Disease: Two Decades of Experience From a Tertiary Care Centre in North West India
P2860
Q26799545-C98E1948-C232-486D-A79E-74A7689BDDDEQ28073099-BB5D6AE9-0D4A-4151-8B95-5D22132A7C27Q28273669-C8E37C6C-BCBD-4152-A41B-BAAC75421E56Q28769508-DB4404FE-4ABE-46BB-8F33-260F2509EA79Q30157297-0F9A1A2E-7179-4312-BD34-0A1C688D7E12Q30909238-B1A3615D-1656-4D20-B979-AA850B08914EQ33432503-F13C3AE4-CC2A-40C5-A1EC-349E7C156212Q33533669-A0935F9B-96AD-437F-A867-BE8DCFDDE107Q33849142-C2531986-AF52-4271-8059-ED43B1F23BDAQ33930829-6AE48FA5-3A25-4342-828E-CCB9585014E0Q34146234-D772AA17-698A-434A-BAD3-627EC6E24C21Q34507220-9023DFE7-06B0-4BFE-A649-E42955213479Q35003320-13D776EA-AC1C-40A6-969C-75567274FD5AQ35023630-D1AF1853-6C0C-47A8-8CE4-E03BAC2840C9Q35743968-857C85D5-7C9D-451E-83E4-EACBCC7ADA64Q37081586-A9D72436-63BF-43CE-86B2-10114D1C3308Q37186009-CAA70A61-232F-4B6E-A4CA-04851632544CQ37825925-AABB22E0-D7B4-4925-91B2-6588544C44BBQ38032203-488E3439-2074-402F-9DD1-494D82446AA7Q38673434-61544DEA-1DEE-499A-9317-2CED0F78122FQ38712492-3FD6D4C4-AF4D-4DA0-BB87-7CD676CC63EEQ38991998-407CAA59-4BA9-4791-A5D8-2632921672E8Q41897140-98E3AFF1-1E0E-4FDA-88A4-E0B8DABF41EBQ42414071-A1C29D0B-4D9B-43CD-B982-AF37A4996A0BQ43938321-D0849AF3-3789-41C0-B29C-E3B0B3BAED9BQ45207564-1AC3BBFB-6270-47C3-BE44-8BD2CA319A65Q45353388-919CCDEE-E3C3-4FDC-AC0F-5E66196A1FAFQ50557087-03B332F0-617B-4230-99E6-A81FEB9C605CQ58412751-9EBCA53D-0E53-41DA-9CF9-20DEE52AC01E
P2860
A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease
description
1997 nî lūn-bûn
@nan
1997 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
A p47-phox pseudogene carries ...... chronic granulomatous disease
@ast
A p47-phox pseudogene carries ...... chronic granulomatous disease
@en
A p47-phox pseudogene carries ...... chronic granulomatous disease
@nl
type
label
A p47-phox pseudogene carries ...... chronic granulomatous disease
@ast
A p47-phox pseudogene carries ...... chronic granulomatous disease
@en
A p47-phox pseudogene carries ...... chronic granulomatous disease
@nl
prefLabel
A p47-phox pseudogene carries ...... chronic granulomatous disease
@ast
A p47-phox pseudogene carries ...... chronic granulomatous disease
@en
A p47-phox pseudogene carries ...... chronic granulomatous disease
@nl
P2093
P2860
P3181
P356
P1476
A p47-phox pseudogene carries ...... chronic granulomatous disease
@en
P2093
B Christensen
J T Curnutte
P J Hopkins
S J Chanock
P2860
P304
P3181
P356
10.1172/JCI119721
P407
P577
1997-10-15T00:00:00Z