[HTML][HTML] The genetics and genomics of cystic fibrosis
N Sharma, GR Cutting - Journal of Cystic Fibrosis, 2020 - Elsevier
Genetics is the branch of biology concerned with study of individual genes and how they
work whereas genomics is involved with the analysis of all genes and their interactions. Both …
work whereas genomics is involved with the analysis of all genes and their interactions. Both …
Genetics of cystic fibrosis
ST Lommatzsch, R Aris - Seminars in Respiratory and critical …, 2009 - thieme-connect.com
Cystic fibrosis (CF) is a complicated disease involving many organ systems. Identification of
the cystic fibrosis transmembrane regulator (CFTR) genetic code has not only enhanced our …
the cystic fibrosis transmembrane regulator (CFTR) genetic code has not only enhanced our …
The cystic fibrosis gene: a molecular genetic perspective
LC Tsui, R Dorfman - Cold Spring Harbor …, 2013 - perspectivesinmedicine.cshlp.org
The positional cloning of the gene responsible for cystic fibrosis (CF) was the important first
step in understanding the basic defect and pathophysiology of the disease. This study aims …
step in understanding the basic defect and pathophysiology of the disease. This study aims …
The molecular basis for disease variability in cystic fibrosis
Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the cystic
fibrosis transmembrane conductance regulator (CFTR) gene. The disease is characterized …
fibrosis transmembrane conductance regulator (CFTR) gene. The disease is characterized …
A clinical perspective of cystic fibrosis and new genetic findings: relationship of CFTR mutations to genotype–phenotype manifestations
LL Kulczycki, M Kostuch… - American Journal of …, 2003 - Wiley Online Library
The present report describes several aspects of the relationship of mutations in the cystic
fibrosis (CF) transmembrane conductance regulator (CFTR) gene to phenotype expression …
fibrosis (CF) transmembrane conductance regulator (CFTR) gene to phenotype expression …
Cystic fibrosis genetics: from molecular understanding to clinical application
GR Cutting - Nature Reviews Genetics, 2015 - nature.com
The availability of the human genome sequence and tools for interrogating individual
genomes provide an unprecedented opportunity to apply genetics to medicine. Mendelian …
genomes provide an unprecedented opportunity to apply genetics to medicine. Mendelian …
[HTML][HTML] Analysis of genomic CFTR DNA
C Férec, C Le Maréchal, MP Audrézet… - Journal of Cystic …, 2004 - Elsevier
There are numerous methodologies available for the analysis of genomic CFTR DNA. We
present here the basic tools to allow a thorough investigation of the CFTR gene, beginning …
present here the basic tools to allow a thorough investigation of the CFTR gene, beginning …
A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis
M Lucarelli, SM Bruno, S Pierandrei, G Ferraguti… - Molecular …, 2015 - Springer
Cystic fibrosis (CF) is a monogenic disease caused by mutations of the cystic fibrosis
transmembrane conductance regulator (CFTR) gene. The genotype-phenotype relationship …
transmembrane conductance regulator (CFTR) gene. The genotype-phenotype relationship …
Genetics of cystic fibrosis
S Gallati - Seminars in respiratory and critical care medicine, 2003 - thieme-connect.com
Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator
(CFTR) gene, which encodes a protein expressed in the apical membrane of exocrine …
(CFTR) gene, which encodes a protein expressed in the apical membrane of exocrine …
Human Molecular Genetics and the long road to treating cystic fibrosis
A Harris - Human Molecular Genetics, 2021 - academic.oup.com
The causative gene in cystic fibrosis (CF) was identified in 1989, 3 years before the
publication of the first issue of Human Molecular Genetics. The cystic fibrosis …
publication of the first issue of Human Molecular Genetics. The cystic fibrosis …
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