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.

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作者： Raëd,Farhat ^[1] ; Géraldine,Puissesseau ^[1] ; Ayman,El-Seedy ^[2] ; Marie-Claude,Pasquet ^[3] ; Catherine,Adolphe ^[4] ; Sandra,Corbani ^[5] ; André,Megarbané ^[5] ; Alain,Kitzis ^[3] ; Véronique,Ladeveze ^[1]

作者单位： University of Poitiers, "Génétique Moléculaire de Maladies Rares", 86073 Poitiers, France. ^[1] University of Poitiers, "Génétique Moléculaire de Maladies Rares", 86073 Poitiers, France ; University of Alexandria, Department of Genetics, Aflaton Street, El-Shatby, Alexandria 21545, Egypt. ^[2] University of Poitiers, "Génétique Moléculaire de Maladies Rares", 86073 Poitiers, France ; "Centre Hospitalier Universitaire de Poitiers", 86021 Poitiers, France. ^[3] University of Poitiers, 86000 Poitiers, France. ^[4] Saint Joseph University, "Unité de Génétique Médicale", Faculty of Medicine, Beirut 1104 2020, Lebanon. ^[5]

主题词等位基因(Alleles);氨基酸取代(Amino Acid Substitution);碱基序列(Base Sequence);囊性纤维化(Cystic Fibrosis);囊性纤维化跨膜传导调节因子(Cystic Fibrosis Transmembrane Conductance Regulator);DNA, 互补(DNA, Complementary);外显子(Exons);HEK293细胞(HEK293 Cells);HT29细胞(HT29 Cells);人类(Humans);黎巴嫩(Lebanon);分子序列数据(Molecular Sequence Data);突变(Mutation);点突变(Point Mutation);RNA剪接(RNA Splicing);转染(Transfection)

DOI 10.1155/2015/138103

PMID 26075213

发布时间 2018-11-13

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BioMed research international

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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.

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N1303K (c.3909C&gt;G) mutation and splicing: implication of its c.[744-33GATT(6); 869+11C&gt;T] complex allele in CFTR exon 7 aberrant splicing.

BioMed research international

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BioMed research international

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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.