Geographic distribution and origin of CFTR mutations in Germany

Human Genetics

Volumn 97, Issue 6, 1996, Pages 727-731

  Tummler B ^a   Storrs, T ^a   Dziadek, V ^a   Dork T ^a   Meitinger, T ^b   Golla, A ^b   Bertele Harms, R M ^b   Harms, H K ^b   Schroder E ^c   Claass A ^d   Rutjes, J ^d   Schneppenheim, R ^d   Bauer, I ^e   Breuel, K ^e   Stuhrmann, M ^a   Schmidtke, J ^a   Lindner, M ^f   Eigel, A ^g   Horst, J ^g   Kaiser, R ^h   Lentze, M J ^h   Schmidt, K ⁱ   Von Der Hardt, H ^a   Estivill, X ^j   more..

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c HEINRICH HEINE UNIVERSITY   (Germany)

^d UNIVERSITY OF KIEL   (Germany)

^e UNIVERSITY OF ROSTOCK   (Germany)

^f UNIVERSITY HOSPITAL ULM   (Germany)

^g UNIVERSITY OF MÜNSTER   (Germany)

^h UNIVERSITY OF BONN   (Germany)

ⁱ KLINIKUM ESSLINGEN   (Germany)

^j Institut de Recerca Oncologica   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CYSTIC FIBROSIS; FAMILY STUDY; GENE FREQUENCY; GENE MUTATION; GEOGRAPHIC DISTRIBUTION; GERMANY; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL;

EID: 15844378935     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02346181     Document Type: Article

References (7)

1. Dörk T, Fislage R, Rappen U, Tümmler B (1993) Severe splice site mutation preceding exon 9 of the CFTR gene. Hum Mol Genet 2: 1313-1314
2. Grade K, Will K, Szibor R, Gedschold J, Brückner R, Bauer I. Giermann K, Gorki H, Hein J, Brell U, Coutelle C (1990) First analysis of the F508 deletion in cystic fibrosis patients from the GDR. Hum Genet 85: 406-407
3. Highsmith WE, Burch LH, Zhou Z, Olsen JC, Boat TE, Spock A, Gorvoy JD, Quittell L, Friedman KJ, Silverman LM, Boucher RC, Knowles MR (1994) A novel mutation in the cystic fibrosis gene with pulmonary disease but normal sweat chloride concentration. N Engl J Med 331: 974-980
4. Kerem BS, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC (1989) Identification of the cystic fibrosis gene: genetic analysis. Science 245: 1073-1080
5. Shoshani T, Augarten A, Gazit E, Bashan N, Yahav Y, Rivlin Y, Tal A, Seret H, Yaar L, Kerem E, Kerem BS (1992) Association of a nonsense mutation (W1282X). the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. Am J Hum Genet 50: 222-228
6. The Cystic Fibrosis Genetic Analysis Consortium (1994) Population variation of common cystic fibrosis mutations. Hum Mutat 4: 167-177
7. Welsh MJ, Tsui LC, Boat TF, Beaudet AL (1995) Cystic fibrosis. In: Scriver CR, Beaudet AL, Sly WS, Valla D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 3799-3876