Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis

Prenatal Diagnosis

Volumn 21, Issue 4, 2001, Pages 279-283

  Benit, Paule ^a   Bonnefont, Jean Paul ^a   Mostefa, Ali Kara ^a   Francannet, Christine ^a   Munnich, Arnold ^a   Ray, Pierre F ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

DHPLC assay; TSC1 mutation; Tuberous sclerosis; Type 1

Indexed keywords

DNA; HAMARTIN; TUBERIN;

ARTICLE; ASSAY; AUTOMATION; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHORION VILLUS; CONTROLLED STUDY; DENATURING GRADIENT GEL ELECTROPHORESIS; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; FETUS; GENE MUTATION; GENETIC COUNSELING; GENETIC HETEROGENEITY; HAPLOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INTERMETHOD COMPARISON; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PRODUCTIVITY; SINGLE STRAND CONFORMATION POLYMORPHISM; TUBEROUS SCLEROSIS;

CHORIONIC VILLI; CHORIONIC VILLI SAMPLING; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; FEMALE; FETAL DISEASES; GESTATIONAL AGE; HUMANS; LINKAGE (GENETICS); MALE; MICROSATELLITE REPEATS; MUTATION; NUCLEIC ACID DENATURATION; PEDIGREE; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; PROTEINS; REPRESSOR PROTEINS; SENSITIVITY AND SPECIFICITY; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 0035011115     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.55     Document Type: Article

References (24)

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