A novel mutation detected by temporal temperature gradient gel electrophoresis led to the confirmative prenatal diagnosis of a Hispanic CF family

Prenatal Diagnosis

Volumn 20, Issue 10, 2000, Pages 807-810

  Wong, Lee Jun C ^a   Wang, Jianjun ^a   Woo, Marilyn ^b   Hsu, Evelyn ^b   Michael Bowman, C ^b  

^a GEORGETOWN UNIVERSITY MEDICAL CENTER   (United States)

^b CHILDREN S HOSPITAL LOS ANGELES   (United States)

Author keywords

Cystic fibrosis; Mutation detection; Novel mutation; Prenatal diagnosis; TTGE

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CYSTIC FIBROSIS; DNA SEQUENCE; ETHNIC GROUP; FETUS; GEL ELECTROPHORESIS; GENE MUTATION; GENETIC COUNSELING; GENETIC RISK; HETEROZYGOTE; HUMAN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CHILD, PRESCHOOL; CYSTIC FIBROSIS; DNA; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HISPANIC AMERICANS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; TEMPERATURE;

EID: 0033744189     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/1097-0223(200010)20:10<807::AID-PD929>3.0.CO;2-A     Document Type: Article

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