Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome

Clinical Genetics

Volumn 65, Issue 4, 2004, Pages 322-326

  Tabori, U ^a   Mark, Z ^a   Amariglio, N ^a   Etzioni, A ^b   Golan, H ^a   Biloray, B ^a   Toren, A ^a   Rechavi, G ^a   Dalal, Ilan ^c,d  

^a SHEBA MEDICAL CENTER   (Israel)

^b MEYER CHILDREN S HOSPITAL   (Israel)

^c WOLFSON MEDICAL CENTER   (Israel)

^d TEL AVIV UNIVERSITY   (Israel)

Author keywords

Mutations analysis; Omenn's syndrome; Prenatal diagnosis; RAG1 RAG2 genes; T B SCID

Indexed keywords

RAG1 PROTEIN; RAG2 PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; CELL ISOLATION; CHORION VILLUS SAMPLING; CLINICAL ARTICLE; COMBINED IMMUNODEFICIENCY; CONSANGUINITY; CONTROLLED STUDY; DNA EXTRACTION; FETUS; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; HOMOZYGOSITY; HUMAN; HUMAN CELL; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OMENN SYNDROME; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RISK ASSESSMENT;

ADULT; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FAMILY HEALTH; FEMALE; HOMEODOMAIN PROTEINS; HOMOZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; NUCLEAR PROTEINS; POLYMORPHISM, GENETIC; PREGNANCY; PRENATAL DIAGNOSIS; RELIGION; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 1842529347     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2004.00227.x     Document Type: Article

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