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Katrin Will

Hochschule Hannover

7

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139

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A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis.

1994 Journal of Clinical Investigation
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A donor splice mutation (405 + 1 G → A) in cystic fibrosis associated with exon skipping in epithelial CFTR mRNA

1993 Human Molecular Genetics
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Alternative splicing in the first nucleotide binding fold of CFTR

1993 Human Molecular Genetics
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CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X.

1993 Journal of Medical Genetics
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Missense variation of the CFTR gene codon 507

1992 Human Mutation
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Citations (3)