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Geographic distribution and origin of CFTR mutations in Germany

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Geographic distribution and origin of CFTR mutations in Germany. / Tümmler, B; Storrs, T; Dziadek, V; Dörk, T; Meitinger, T; Golla, A; Bertele-Harms, R M; Harms, H K; Schröder, E; Claass, A; Rutjes, J; Schneppenheim, R; Bauer, I; Breuel, K; Stuhrmann, M; Schmidtke, J; Lindner, M; Eigel, A; Horst, J; Kaiser, R; Lentze, M J; Schmidt, K; von der Hardt, H; Estivill, X.

in: HUM GENET, Jahrgang 97, Nr. 6, 01.06.1996, S. 727-31.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Tümmler, B, Storrs, T, Dziadek, V, Dörk, T, Meitinger, T, Golla, A, Bertele-Harms, RM, Harms, HK, Schröder, E, Claass, A, Rutjes, J, Schneppenheim, R, Bauer, I, Breuel, K, Stuhrmann, M, Schmidtke, J, Lindner, M, Eigel, A, Horst, J, Kaiser, R, Lentze, MJ, Schmidt, K, von der Hardt, H & Estivill, X 1996, 'Geographic distribution and origin of CFTR mutations in Germany', HUM GENET, Jg. 97, Nr. 6, S. 727-31.

APA

Tümmler, B., Storrs, T., Dziadek, V., Dörk, T., Meitinger, T., Golla, A., Bertele-Harms, R. M., Harms, H. K., Schröder, E., Claass, A., Rutjes, J., Schneppenheim, R., Bauer, I., Breuel, K., Stuhrmann, M., Schmidtke, J., Lindner, M., Eigel, A., Horst, J., ... Estivill, X. (1996). Geographic distribution and origin of CFTR mutations in Germany. HUM GENET, 97(6), 727-31.

Vancouver

Tümmler B, Storrs T, Dziadek V, Dörk T, Meitinger T, Golla A et al. Geographic distribution and origin of CFTR mutations in Germany. HUM GENET. 1996 Jun 1;97(6):727-31.

Bibtex

@article{c418adf634824da68a5d427e03f426ce,
title = "Geographic distribution and origin of CFTR mutations in Germany",
abstract = "The geographic distribution and origin of CFTR mutations in Germany was evaluated in 658 three-generation families with cystic fibrosis (CF). Fifty different mutations were detected on 1305 parental CF chromosomes from 22 European countries and overseas. The major mutation. delta F508 was identified on 71.5% of all CF chromosomes, followed by R553X (1.8%), N1303K (1.3%), G542X (1.1%), G551D (0.8%) and R347P (0.8%). According to the grandparents' birthplace, 74% of CF chromosomes had their origin in Germany; the delta F508 percentage was 77%, 75%, 70% and 62% in northern, southern, western and eastern Germany, respectively. Ten or more mutant alleles in the investigated CF gene pool originated from Austria, the Czech Republic, Poland, Russia, Turkey and the Ukraine. This widespread geographic origin of CFTR mutations in today's Germany reflects the many demographic changes and migrations in Central Europe during the 20th century.",
keywords = "Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, Europe, Family, Female, Genetic Testing, Genotype, Germany, Humans, Male, Mutation, Population Dynamics, Turkey",
author = "B T{\"u}mmler and T Storrs and V Dziadek and T D{\"o}rk and T Meitinger and A Golla and Bertele-Harms, {R M} and Harms, {H K} and E Schr{\"o}der and A Claass and J Rutjes and R Schneppenheim and I Bauer and K Breuel and M Stuhrmann and J Schmidtke and M Lindner and A Eigel and J Horst and R Kaiser and Lentze, {M J} and K Schmidt and {von der Hardt}, H and X Estivill",
year = "1996",
month = jun,
day = "1",
language = "English",
volume = "97",
pages = "727--31",
journal = "HUM GENET",
issn = "0340-6717",
publisher = "Springer",
number = "6",

}

RIS

TY - JOUR

T1 - Geographic distribution and origin of CFTR mutations in Germany

AU - Tümmler, B

AU - Storrs, T

AU - Dziadek, V

AU - Dörk, T

AU - Meitinger, T

AU - Golla, A

AU - Bertele-Harms, R M

AU - Harms, H K

AU - Schröder, E

AU - Claass, A

AU - Rutjes, J

AU - Schneppenheim, R

AU - Bauer, I

AU - Breuel, K

AU - Stuhrmann, M

AU - Schmidtke, J

AU - Lindner, M

AU - Eigel, A

AU - Horst, J

AU - Kaiser, R

AU - Lentze, M J

AU - Schmidt, K

AU - von der Hardt, H

AU - Estivill, X

PY - 1996/6/1

Y1 - 1996/6/1

N2 - The geographic distribution and origin of CFTR mutations in Germany was evaluated in 658 three-generation families with cystic fibrosis (CF). Fifty different mutations were detected on 1305 parental CF chromosomes from 22 European countries and overseas. The major mutation. delta F508 was identified on 71.5% of all CF chromosomes, followed by R553X (1.8%), N1303K (1.3%), G542X (1.1%), G551D (0.8%) and R347P (0.8%). According to the grandparents' birthplace, 74% of CF chromosomes had their origin in Germany; the delta F508 percentage was 77%, 75%, 70% and 62% in northern, southern, western and eastern Germany, respectively. Ten or more mutant alleles in the investigated CF gene pool originated from Austria, the Czech Republic, Poland, Russia, Turkey and the Ukraine. This widespread geographic origin of CFTR mutations in today's Germany reflects the many demographic changes and migrations in Central Europe during the 20th century.

AB - The geographic distribution and origin of CFTR mutations in Germany was evaluated in 658 three-generation families with cystic fibrosis (CF). Fifty different mutations were detected on 1305 parental CF chromosomes from 22 European countries and overseas. The major mutation. delta F508 was identified on 71.5% of all CF chromosomes, followed by R553X (1.8%), N1303K (1.3%), G542X (1.1%), G551D (0.8%) and R347P (0.8%). According to the grandparents' birthplace, 74% of CF chromosomes had their origin in Germany; the delta F508 percentage was 77%, 75%, 70% and 62% in northern, southern, western and eastern Germany, respectively. Ten or more mutant alleles in the investigated CF gene pool originated from Austria, the Czech Republic, Poland, Russia, Turkey and the Ukraine. This widespread geographic origin of CFTR mutations in today's Germany reflects the many demographic changes and migrations in Central Europe during the 20th century.

KW - Cystic Fibrosis

KW - Cystic Fibrosis Transmembrane Conductance Regulator

KW - Europe

KW - Family

KW - Female

KW - Genetic Testing

KW - Genotype

KW - Germany

KW - Humans

KW - Male

KW - Mutation

KW - Population Dynamics

KW - Turkey

M3 - SCORING: Journal article

C2 - 8641688

VL - 97

SP - 727

EP - 731

JO - HUM GENET

JF - HUM GENET

SN - 0340-6717

IS - 6

ER -