BIOMAT Database Logo BIOMAT Database Logo

Cystic fibrosis delta F508 mutation in a French population. 1991

G Lucotte, and E Barre
Laboratoire d'Anthropologie Physique, College de France, Paris.

UI MeSH Term Description Entries
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D003550 Cystic Fibrosis An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION. Mucoviscidosis,Cystic Fibrosis of Pancreas,Fibrocystic Disease of Pancreas,Pancreatic Cystic Fibrosis,Pulmonary Cystic Fibrosis,Cystic Fibrosis, Pancreatic,Cystic Fibrosis, Pulmonary,Fibrosis, Cystic,Pancreas Fibrocystic Disease,Pancreas Fibrocystic Diseases
D004252 DNA Mutational Analysis Biochemical identification of mutational changes in a nucleotide sequence. Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D005602 France A country in western Europe bordered by the Atlantic Ocean, the English Channel, the Mediterranean Sea, and the countries of Belgium, Germany, Italy, Spain, Switzerland, the principalities of Andorra and Monaco, and by the duchy of Luxembourg. Its capital is Paris. Corsica,Saint Pierre and Miquelon,Miquelon and Saint Pierre,Miquelon and St. Pierre,St. Pierre and Miquelon
D005787 Gene Frequency The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies
D006239 Haplotypes The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. Haplotype
D006720 Homozygote An individual in which both alleles at a given locus are identical. Homozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

Related Publications

G Lucotte, and E Barre
The cystic fibrosis delta F508 mutation in the French population.
September 1990, Human genetics,
G Lucotte, and E Barre
The cystic fibrosis delta F508 mutation in the Albanian population.
April 1992, American journal of human genetics,
G Lucotte, and E Barre
Frequency of the cystic fibrosis delta F508 mutation in a large sample of the French population.
September 1990, Human genetics,
G Lucotte, and E Barre
[Detection of delta F508 mutation in cystic fibrosis].
September 1992, Orvosi hetilap,
G Lucotte, and E Barre
Young's syndrome and cystic fibrosis mutation delta F508.
July 1993, Lancet (London, England),
G Lucotte, and E Barre
Age of the delta F508 cystic fibrosis mutation.
November 1994, Nature genetics,
G Lucotte, and E Barre
Prenatal screening for delta F508 mutation in population not selected for cystic fibrosis.
November 1990, Lancet (London, England),
G Lucotte, and E Barre
A mouse model for the cystic fibrosis delta F508 mutation.
September 1995, The EMBO journal,
G Lucotte, and E Barre
The cystic fibrosis delta F508 gene mutation and cancer.
January 1997, Human mutation,
G Lucotte, and E Barre
Screening for cystic fibrosis: use of delta F508 mutation.
April 1990, Lancet (London, England),
Copied contents to your clipboard!