Analysis of 3208 cystic fibrosis prenatal diagnoses: Impact of carrier screening guidelines on distribution of indications for CFTR mutation and IVS-8 poly(T) analyses

Genetics in Medicine

Volumn 6, Issue 5, 2004, Pages 400-404

  Rohlfs, Elizabeth M ^a,c   Weinblatt, Vivian J ^b   Treat, Karen J ^a   Sugarman, Elaine A ^a  

^a GENZYME CORPORATION   (United States)

^b Genzyme Genetics   (United States)

^c Genzyme Genetics   (United States)

Author keywords

5T allele; CFTR mutations; IVS 8 poly(T) variant; Prenatal testing

Indexed keywords

GENOMIC DNA; POLYTHYMIDYLIC ACID;

5T ALLELE; ALLELE; ARTICLE; CFTR GENE; CYSTIC FIBROSIS; DATA ANALYSIS; FETUS; FETUS ECHOGRAPHY; FOLLOW UP; GENE; GENE MUTATION; GENETIC ANALYSIS; HEALTH CARE COST; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYBRIDIZATION; INTRON; IVS 8 POLY(T) VARIANT; LONG TERM CARE; MAJOR CLINICAL STUDY; MASS SCREENING; MATERNAL CARE; MEDICAL SOCIETY; MUTATIONAL ANALYSIS; PATIENT REFERRAL; POPULATION DISTRIBUTION; PRACTICE GUIDELINE; PRENATAL DIAGNOSIS; PRENATAL SCREENING; PUBLICATION; REIMBURSEMENT; TREATMENT INDICATION;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMANS; POLY T; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 4644298389     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.GIM.0000139504.05850.4B     Document Type: Article

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