[Direct genetic diagnosis in cystic fibrosis].
The recent cloning of the cystic fibrosis gene and the simultaneous identification of the predominant mutation enabled direct gene diagnosis in the majority of all CF families. We demonstrate the superiority of now available direct genotyping in five individual cases.
Reiss
J
J
Institut für Humangenetik, Universitätskliniken Göttingen.
Schlösser
M
M
Wagner
M
M
Lenz
U
U
Krawczak
M
M
Ammann
G
G
Klösser
S
S
Böwing
B
B
D000328:Adult; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D015342:DNA Probes; D005260:Female; D006580:Genetic Carrier Screening; D005819:Genetic Markers; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis
D015342:DNA Probes; D005819:Genetic Markers
Direkte Gendiagnostik bei zystischer Fibrose.