International Federation of Clinical Chemistry (IFCC). Molecular biology techniques in the diagnosis of monogenic diseases.
Wagener
C
C
Department of Clinical Chemistry, University Hospital Eppendorf, Hamburg, Germany.
Epplen
J T
JT
Erlich
H
H
Peretz
H
H
Vihko
P
P
D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008403:Mass Screening; D008967:Molecular Biology / Q000379:methods*; D009154:Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017422:Sequence Analysis, DNA