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 …
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 …
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 …
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 …
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 …
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) …
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 …
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 …
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 …