CFTR ΔF508 mutation detection from dried blood samples in the first trimester of pregnancy: A possible routine prenatal screening strategy for cystic fibrosis?

Fetal Diagnosis and Therapy

Volumn 22, Issue 1, 2006, Pages 41-44

  Konialis, Christopher P ^a   Hagnefelt, Birgitta ^a   Kazamia, Constantina ^a   Karapanou, Sophia ^a   Pangalos, Constantinos ^a  

^a Diagnostic Genetic Center   (Greece)

Author keywords

F508 mutation; Cystic fibrosis; Dried blood spots; Population screening; Prenatal screening

Indexed keywords

DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; BLOOD ANALYSIS; BLOOD SAMPLING; COST EFFECTIVENESS ANALYSIS; CYSTIC FIBROSIS; DNA DETERMINATION; DNA ISOLATION; DOWN SYNDROME; EARLY DIAGNOSIS; FEMALE; FIRST TRIMESTER PREGNANCY; GENE MUTATION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; MUTATIONAL ANALYSIS; PRENATAL SCREENING; PRIORITY JOURNAL; RISK ASSESSMENT; SCREENING TEST; BLOOD; GENETICS; GREECE; MALE; METHODOLOGY; MUTATION; PILOT STUDY; PREGNANCY; PRENATAL DIAGNOSIS; PREVALENCE;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; GENETIC SCREENING; GREECE; HUMANS; MALE; MUTATION; PILOT PROJECTS; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PRENATAL DIAGNOSIS; PREVALENCE;

EID: 33845734111     PISSN: 10153837     EISSN: None     Source Type: Journal    
DOI: 10.1159/000095842     Document Type: Article

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