Výsledky vyhledávání - "Catherine Adolphe"

Complexity of phenotypes induced by p.Asn1303Lys-CFTR correlates with difficulty to rescue and activate this protein

Autor: Véronique Ladeveze, Hugo Talbot, Alain Kitzis, Ayman El-Seedy, Catherine Adolphe, Marie-Claude Pasquet, Caroline Norez, Raí«d Farhat

Publikováno v: Cellular and molecular biology (Noisy-le-Grand, France). 63(11)

Cystic Fibrosis is the most common recessive autosomal rare disease found in Caucasian. It is caused by mutations on the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) that encodes for a protein located on the apical membrane of epit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26ac77068e715d11b546c4362d262c07
https://pubmed.ncbi.nlm.nih.gov/29208182

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N1303K (c.3909C>G) Mutation and Splicing: Implication of Its c.[744-33GATT(6); 869+11C>T] Complex Allele in CFTR Exon 7 Aberrant Splicing

Autor: Catherine Adolphe, André Mégarbané, Sandra Corbani, Véronique Ladeveze, Alain Kitzis, Raed Farhat, Ayman El-Seedy, Marie-Claude Pasquet, Géraldine Puissesseau

Publikováno v: BioMed Research International, Vol 2015 (2015)
BioMed Research International

Cystic Fibrosis is the most common recessive autosomal rare disease found in Caucasians. It is caused by mutations on theCystic Fibrosis Transmembrane Conductance Regulatorgene (CFTR) that encodes a protein located on the apical membrane of epithelia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70ed14f170e2f6db44c0842b0f47d0e7
https://doaj.org/article/a69f8464ba5f4132832d7034543186cd

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