Mutation screening and prenatal diagnosis of a pedigree with Glanzmann's thrombasthenia

Chinese Journal of Medical Genetics

Volumn 28, Issue 3, 2011, Pages 251-255

  Li, Wen ^a,b   Liu, Jin Lei ^a   Li, Lu Yun ^a,b   Lu, Guang Xiu ^a,b  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b Reproductive and Genetic Hospital of Citic Xiangya   (China)

Author keywords

Glanzmann's thrombasthenia; ITGA2B gene; Point mutation; Prenatal diagnosis; Splice of heterogeneous nuclear RNA

Indexed keywords

COMPLEMENTARY DNA; DNA; ITGA2B PROTEIN; ITGB3 PROTEIN; PROTEIN; RNA; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME DELETION; CODON; FEMALE; GENETIC SCREENING; GLANZMANN DISEASE; HUMAN; INTRON; MOLECULAR CLONING; MUTATION; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING;

BASE SEQUENCE; CHILD, PRESCHOOL; FEMALE; GENE ORDER; GENETIC TESTING; GENOTYPE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX; PREGNANCY; PRENATAL DIAGNOSIS; PROTEIN CONFORMATION; THROMBASTHENIA;

EID: 79959567397     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.1003-9406.2011.03.003     Document Type: Article

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