Non-invasive prenatal molecular detection of a fetal point mutation for congenital adrenal hyperplasia using co-amplification at lower denaturation temperature PCR

Chinese Medical Journal

Volumn 123, Issue 22, 2010, Pages 3343-3346

  Du, Juan ^a   Zou, Xin ^a   Pan, Yi ^a   Li, Shuang Fei ^a   Lu, Guang Xiu ^a  

^a CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

Cell free fetal DNA; Co amplification at lower denaturation temperature polymerase chain reaction; Congenital adrenal hyperplasia; Non invasive prenatal diagnosis

Indexed keywords

GENOMIC DNA; STEROID 21 MONOOXYGENASE;

ARTICLE; CASE REPORT; CELL FREE SYSTEM; CO AMPLIFICATION AT LOWER DENATURATION TEMPERATURE POLYMERASE CHAIN REACTION; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DNA DENATURATION; DNA ISOLATION; FEMALE; FETUS; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMAN; INTERMETHOD COMPARISON; LOW TEMPERATURE PROCEDURES; MALE; MATERNAL SERUM; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; NON INVASIVE PROCEDURE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; RESTRICTION MAPPING;

ADRENAL HYPERPLASIA, CONGENITAL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; FEMALE; HUMANS; POINT MUTATION; POLYMERASE CHAIN REACTION; PREGNANCY;

EID: 79251517065     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.0366-6999.2010.22.031     Document Type: Article

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