Defective CFTR does not transport Cl- from cytosol to extracellular region - Wikidata - awgldk - TriplyDB

Defective CFTR does not transport Cl- from cytosol to extracellular region

Defective CFTR does not transport Cl- from cytosol to extracellular region

http://www.wikidata.org/entity/Q50288955

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Defective CFTR causes cystic fibrosis

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Q45314453-38E67B07-89C0-434F-A5D2-2DE88FBB9E9C

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Defective CFTR does not transport Cl- from cytosol to extracellular region

http://www.wikidata.org/entity/Q50288955

description

An instance of the biological ...... ellular region in Homo sapiens

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biologisch proces

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name

Defective CFTR does not transport Cl- from cytosol to extracellular region

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type

label

Defective CFTR does not transport Cl- from cytosol to extracellular region

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prefLabel

Defective CFTR does not transport Cl- from cytosol to extracellular region

@en

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Identification of the cystic fibrosis gene: genetic analysis

A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew.

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.

A mutation in the second nucleotide binding fold of the cystic fibrosis gene.

Cystic fibrosis transmembrane conductance regulator intracellular processing, trafficking, and opportunities for mutation-specific treatment.

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.

Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis.

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reactome:R-HSA-5678822

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biological process

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Defective CFTR causes cystic fibrosis

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R-HSA-5678822

http://www.w3.org/2001/XMLSchema#string

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adenosine triphosphate

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