Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

Julian Zielenski, Richard Rozmahel, Dominique Bozon, +5

Genomics

Molecular PhysiologyNatural SciencesGeneticsGenomic Dna SequenceMolecular Biology +9

Genetic determination of exocrine pancreatic function in cystic fibrosis.

Peter Kristidis, Dominique Bozon, Mary Corey, +4

PubMed

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.

Batsheva Kerem, Julian Zielenski, D. Markiewicz, +7

Proceedings of the National Academy of Sciences

Cf MutationsGeneticsGenetic EpidemiologyMolecular BiologyPathology +14

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

Mireille Claustres, Caroline Guittard, Dominique Bozon, +22

Human Mutation

Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

Julian Zielenski, Dominique Bozon, Batsheva Kerem, +4

Genomics

Exons 1Molecular PhysiologyGenetic DisorderNatural SciencesGenetics +7

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe

Thilo Dörk, Milan Maçek, Frauke Mekus, +64

Human Genetics

FibrosisMendelian DisorderGenetic DisorderMedicineGenetics +9

A novel gly290asp mitochondrial cytochromebmutation linked to a complex III deficiency in progressive exercise intolerance

R. Dumoulin, I. Sagnol, Thérèse Ferlin, +3

Molecular and Cellular Probes

KinesiologyComplex Iii DeficiencyMitochondrial FunctionExerciseProgressive Exercise Intolerance +6

Complete loss of expression of the <i>ANT1</i> gene causing cardiomyopathy and myopathy

Andoni Echaniz‐Laguna, Maïté Chassagne, Jennifer Ceresuela, +7

Journal of Medical Genetics

CFTR genotypes in patients with normal or borderline sweat chloride levels

Delphine Feldmann, Rémy Couderc, Marie‐Pierre Audrézet, +16

Human Mutation

Molecular Diagnostic TechniquesMendelian DisorderGenetic DisorderGeneticsPhysiology +9

Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients

Roseline Froissart, Irène Maire, Gilles Millat, +5

Clinical Genetics