Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus

Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus

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http://www.wikidata.org/entity/Q33970491

Q33970491

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Challenges in the association of human single nucleotide polymorphism mentions with unique database identifiers Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis.The delicate balance between secreted protein folding and endoplasmic reticulum-associated degradation in human physiology Computational Analysis of Damaging Single-Nucleotide Polymorphisms and Their Structural and Functional Impact on the Insulin Receptor Heterogeneity of phenotype in two cystic fibrosis patients homozygous for the CFTR exon 11 mutation G551D Two cystic fibrosis transmembrane conductance regulator mutations have different effects on both pulmonary phenotype and regulation of outwardly rectified chloride currents.Variation in MSRA modifies risk of neonatal intestinal obstruction in cystic fibrosis.Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channels Correction of G551D-CFTR transport defect in epithelial monolayers by genistein but not by CPX or MPB-07.The rules of variation: amino acid exchange according to the rotating circular genetic code.A Single Nucleotide Polymorphism in Catalase Is Strongly Associated with Ovarian Cancer Survival Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations.Meconium ileus caused by mutations in GUCY2C, encoding the CFTR-activating guanylate cyclase 2C Assessing the Disease-Liability of Mutations in CFTR Functional roles of the nucleotide-binding folds in the activation of the cystic fibrosis transmembrane conductance regulator.Development, clinical utility, and place of ivacaftor in the treatment of cystic fibrosis.The Relationship between ALA16VAL Single Gene Polymorphism and Renal Cell Carcinoma Modifier genes in Mendelian disorders: the example of cystic fibrosis Association of 1078 del T cystic fibrosis mutation with severe disease.Cystic fibrosis genotypes and views on screening are both heterogeneous and population related.

P2860

Q21284327-0A4566A7-5DF5-42A7-AF0D-832C814B5935 Q24676028-F3F1ACE5-4E07-486C-B169-65364308A9E7 Q27015793-5CE7D436-8823-493B-AFDA-1955C2EF0E67 Q30395185-FCA06B10-D31C-4430-AA85-C2B9E7CAF306 Q33677715-D974AAAD-C818-4B5F-9299-A7C7F253BE18 Q34080254-BB66947B-A5F0-483B-9B1B-5EDEC55D32E5 Q34205956-57B587DC-2F87-4B06-BBD0-64C91009F7A2 Q34390399-AD14D565-3BDC-4279-A009-F8BDF8541BBC Q35044633-9F73899C-EB96-49C3-BC11-B6C8563A4827 Q35088718-3B902FDE-A080-4F1C-B99A-8A0E2A9CDC3B Q35753523-D73ACF66-5B93-4C4D-8A25-4B2A36E68075 Q35844736-ECAA9A2F-A47B-4092-810E-0AF642E444F9 Q36036566-9C540DD9-082F-490A-A98F-8D30F6482ED4 Q36526518-86C2D279-B6C7-458B-A321-1F17CF4E8D12 Q36624947-92458080-9A95-4E0C-9284-810500AD1DD2 Q37164477-13319ECD-C78D-467C-BF3B-A85D6040088C Q37577505-6FE4016B-89CB-4286-A584-A42AAA633106 Q37822861-DEA43A5A-54F9-4724-A652-D47461EC6C71 Q42657352-0F10D8AA-57BA-461B-A949-F2189C0DCB74 Q43146329-A2589B9B-997A-41A6-A21D-544999718EEE

P2860

Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus

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http://www.wikidata.org/entity/Q33970491

description

1992 nî lūn-bûn

@nan

1992 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

1992 թվականի օգոստոսին հրատարակված գիտական հոդված

@hy

1992年の論文

@ja

1992年論文

@yue

1992年論文

@zh-hant

1992年論文

@zh-hk

1992年論文

@zh-mo

1992年論文

@zh-tw

1992年论文

@wuu