Allelic dropout caused by allele-specific amplification failure in single-cell PCR of the cystic fibrosis delta F508 deletion.
Dreesen
J C
JC
Department of Obstetrics & Gynaecology, Academisch Ziekenhuis Maastricht IVF Laboratory, The Netherlands.
Bras
M
M
Coonen
E
E
Dumoulin
J C
JC
Evers
J L
JL
Geraedts
J P
JP
D000483:Alleles; D016477:Artifacts; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics / Q000517:prevention & control; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004247:DNA / Q000235:genetics* / Q000302:isolation & purification; D004252:DNA Mutational Analysis / Q000379:methods*; D005240:Feasibility Studies; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007962:Leukocytes / Q000737:chemistry*; D016133:Polymerase Chain Reaction / Q000379:methods*; D011296:Prenatal Diagnosis / Q000379:methods*; D017384:Sequence Deletion
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA