Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: Mutation detection methods and utilization

Human Genetics

Volumn 99, Issue 5, 1997, Pages 628-633

  Puck, Jennifer M ^a   Middelton, Lindsay ^a   Pepper, Amy E ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; INTERLEUKIN 2 RECEPTOR;

ARTICLE; BONE MARROW TRANSPLANTATION; CLINICAL ARTICLE; COMBINED IMMUNODEFICIENCY; CONTROLLED STUDY; DNA FINGERPRINTING; DNA SEQUENCE; FEMALE; FETUS; GENE MUTATION; HETEROZYGOTE DETECTION; HIGH RISK POPULATION; HUMAN; HUMAN CELL; MALE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RECEPTOR GENE; SINGLE STRAND CONFORMATION POLYMORPHISM; X CHROMOSOME LINKAGE;

CELL LINE; CYTOKINES; DNA; EXONS; FEMALE; FRAMESHIFT MUTATION; GENES, IMMUNOGLOBULIN; HETEROZYGOTE DETECTION; HUMANS; INFANT, NEWBORN; MACROMOLECULAR SUBSTANCES; MALE; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PREDICTIVE VALUE OF TESTS; PREGNANCY; PRENATAL DIAGNOSIS; RECEPTORS, INTERLEUKIN-2; RISK ASSESSMENT; SEVERE COMBINED IMMUNODEFICIENCY; X CHROMOSOME;

EID: 0030967208     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050418     Document Type: Article

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