Cystic fibrosis: A worldwide analysis of CFTR mutations—correlation with incidence data and application to screening

JL Bobadilla, M Macek Jr, JP Fine… - Human mutation, 2002 - Wiley Online Library
Although there have been numerous reports from around the world of mutations in the gene
of chromosome 7 known as CFTR (cystic fibrosis transmembrane conductance regulator) …

Geographical distribution of cystic fibrosis; The past 70 years of data analyzis

SB Mirtajani, P Farnia, M Hassanzad… - Biomedical and …, 2017 - journals.lww.com
Cystic fibrosis (CF) has been generally well defined throughout the world although its
prevalence is very difficult to ascertain for a number of reasons, including the fact that the …

Spectrum of Mutations in the CFTR Gene in Cystic Fibrosis Patients of Spanish Ancestry

MJ Alonso, D Heine‐Suñer, M Calvo… - Annals of human …, 2007 - Wiley Online Library
We analyzed 1,954 Spanish cystic fibrosis (CF) alleles in order to define the molecular
spectrum of mutations in the CFTR gene in Spanish CF patients. Commercial panels …

[HTML][HTML] CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent

MM Pérez, MC Luna, OH Pivetta, G Keyeux - Journal of Cystic Fibrosis, 2007 - Elsevier
BACKGROUND:: Cystic Fibrosis (CF) is the most prevalent Mendelian disorder in European
populations. Despite the fact that many Latin American countries have a predominant …

Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients

MO Kılınç, VN Ninis, E Dağlı, M Demirkol… - American journal of …, 2002 - Wiley Online Library
We analyzed the CFTR locus in 83 Turkish cystic fibrosis patients to identify mutations,
haplotypes, and the carrier frequency in the population. We detected 36 different mutations …

Multiple membrane-associated tryptophan residues contribute to the transport activity and substrate specificity of the human multidrug resistance protein, MRP1

K Koike, CJ Oleschuk, A Haimeur, SL Olsen… - Journal of Biological …, 2002 - ASBMB
The multidrug resistance protein, MRP1, is a clinically important ATP-binding cassette
transporter in which the three membrane-spanning domains (MSDs), which contain up to 17 …

Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum

I Schrijver, S Ramalingam, R Sankaran… - The Journal of Molecular …, 2005 - Elsevier
Characterization of CFTR mutations in the US Hispanic population is vital to early diagnosis,
genetic counseling, patient-specific treatment, and the understanding of cystic fibrosis (CF) …

[HTML][HTML] Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens–implications for newborn screening

A Kammesheidt, M Kharrazi, S Graham, S Young… - Genetics in …, 2006 - Elsevier
Abstract Purpose In the United States, approximately 1/3,700 babies is born with cystic
fibrosis each year. The> 1,300 documented sequence variants pose a challenge for …

Improved detection of CFTR mutations in Southern California Hispanic CF patients

LJC Wong, J Wang, YH Zhang, E Hsu… - Human …, 2001 - Wiley Online Library
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause
cystic fibrosis (CF), a common autosomal recessive disease in Caucasians. The broad …

Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations

I Schrijver, E Oitmaa, A Metspalu, P Gardner - The Journal of Molecular …, 2005 - Elsevier
Cystic fibrosis (CF), which is due to mutations in the cystic fibrosis transmembrane
conductance regulator gene, is a common life-shortening disease. Although CF occurs with …