Size fractionation of cell-free DNA in maternal plasma improves the detection of a paternally inherited β-thalassemia point mutation by MALDI-TOF mass spectrometry

Fetal Diagnosis and Therapy

Volumn 25, Issue 2, 2009, Pages 246-249

  Li, Ying ^a   Di Naro, Edoardo ^b   Vitucci, Angeloantonio ^b   Grill, Simon ^a   Zhong, Xiao Yan ^a   Holzgreve, Wolfgang ^a   Hahn, Sinuhe ^a  

^a UNIVERSITY WOMEN S HOSPITAL   (Switzerland)

^b UNIVERSITY OF BARI   (Italy)

Author keywords

Thalassemia; Cell free fetal DNA; MALDI TOF mass spectrometry; Size fractionation

Indexed keywords

BETA GLOBIN; DNA FRAGMENT;

ALLELE; ARTICLE; BETA THALASSEMIA; CELL FRACTIONATION; CELL FREE SYSTEM; CODON; COMPARATIVE STUDY; FATHER; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE DETECTION; HIGH RISK PREGNANCY; HUMAN; MALE; MATERNAL PLASMA; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; MOTHER; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SECOND TRIMESTER PREGNANCY;

ADULT; BETA-THALASSEMIA; CHEMICAL FRACTIONATION; DNA; FEMALE; FETUS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; MALE; MATERNAL-FETAL EXCHANGE; POINT MUTATION; PREGNANCY; PRENATAL DIAGNOSIS; SPECTROMETRY, MASS, MATRIX-ASSISTED LASER DESORPTION-IONIZATION;

EID: 66449094745     PISSN: 10153837     EISSN: None     Source Type: Journal    
DOI: 10.1159/000223442     Document Type: Article

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