The article presents the investigation of Lap-Chee Tsui and Francis Collins on the cause of
cystic fibrosis who reached the cystic-fibrosis transmembrane regulator gene (CFTR) that …

The monogenic rare disease Cystic Fibrosis (CF) is caused by mutations in the gene
encoding the CF transmembrane conductance (CFTR) protein, an anion channel expressed …

A history of genetic testing warns that such tests may tell us more than we want to know.
Medical geneticists began mapping the chromosomal infrastructure piece by piece in the …

Idiopathic generalized epilepsies, ie, juvenile myoclonic epilepsy (JME), childhood absence
epilepsy, and epilepsy with grand mal [generalized tonic‐clonic seizures (GTCS)], are the …

We report the isolation and characterization of six overlapping cDNA clones that provide the
first and complete amino acid sequence of the human laminin B1 chain. The cDNA clones …

Pesticides, such as parathion, are metabolized by cytochrome p-450 system to paraoxon,
which is a potent cholinesterase inhibitor. Paraoxonase (PON) catalyzes the hydrolysis of …

Cystic fibrosis (CF) is a lethal autosomal recessive disorder characterized by obstructive
pulmonary disease, pancreatic exocrine deficiency, high content of sodium and chloride in …

The recent cryo-electron microscopy structures of zebrafish and the human cystic fibrosis
transmembrane conductance regulator (CFTR) provided unprecedented insights into …

Cystic fibrosis transmembrane conductance regulator (CFTR) is a cAMP-regulated anion
channel capable of conducting both Cl− and HCO 3−, mutations of which cause cystic …

A collaborative study involving seven research groups provided an opportunity to investigate
the linkage relationships between cystic fibrosis and two DNA marker loci, MET and pJ3. 11 …