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Q42661342-8047FF6C-79B8-4947-8E0B-4221CC4CC7AE
Q42661342-8047FF6C-79B8-4947-8E0B-4221CC4CC7AE
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http://www.wikidata.org/entity/statement/Q42661342-8047FF6C-79B8-4947-8E0B-4221CC4CC7AE
Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
P2860
Q42661342-8047FF6C-79B8-4947-8E0B-4221CC4CC7AE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q42661342-8047FF6C-79B8-4947-8E0B-4221CC4CC7AE
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wasDerivedFrom
8dd0cae0292234a1e0310bdbcc8cbcdecae71001
P2860
A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.