Concepedia

Geographic distribution and origin of CFTR mutations in Germany

Burkhard Tümmler, T. Storrs, Violetta Dziadek, Thilo Dörk, Burkhard Tümmler, H. von der Hardt, Thomas Meitinger, Astrid Golla, R. M. Bertele‐Harms, H. K. Harms,

Human Genetics · 1996 · 23 citations · 5 references

DOI

Concepts

References

5

Identification of the Cystic Fibrosis Gene: Genetic Analysis

Bat-Sheva Kerem, Johanna M. Rommens, Janet A. Buchanan et al. · Science · 1989 · 4.1K citations

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Therapy of CF-Patients with Amitriptyline and Placebo - a Randomised, Double-Blind, Placebo-Controlled Phase IIb Multicenter, Cohort-Study

Lutz Nährlich, Jochen G. Mainz, Constantin Adams et al. · Cellular Physiology and Biochemistry · 2013 · 2.5K citations · Full text

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A Novel Mutation in the Cystic Fibrosis Gene in Patients with Pulmonary Disease but Normal Sweat Chloride Concentrations

W. Edward Highsmith, Lauranell H. Burch, Zhaoqing Zhou et al. · New England Journal of Medicine · 1994 · 437 citations · Full text

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Population variation of common cystic fibrosis mutations

Human Mutation · 1994 · 312 citations

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Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease.

Tzipora Shoshani, Arie Augarten, Ephraim Gazit et al. · PubMed · 1992 · 202 citations

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