Characterization of a novel nonsense mutation in the interleukin-7 receptor α gene in a Korean patient with severe combined immunodeficiency

International Journal of Hematology

Volumn 80, Issue 4, 2004, Pages 332-335

  Jo, Eun Kyeong ^a   Kook, Hoon ^b   Uchiyama, Toru ^d   Hakozaki, Ikuko ^d   Kim, Young Ok ^b   Song, Chang Hwa ^a   Park, Jeong Kyu ^a   Kanegane, Hirokazu ^c   Tsuchiya, Shigeru ^d   Kumaki, Satoru ^d  

^a Chungnam National University   (South Korea)

^b Chonnam National University Medical School   (South Korea)

^c UNIVERSITY OF TOYAMA   (Japan)

^d TOHOKU UNIVERSITY   (Japan)

Author keywords

IL 7 receptor chain; Korean; Mutation; Severe combined immunodeficiency

Indexed keywords

COMPLEMENTARY DNA; INTERLEUKIN 7 RECEPTOR; RNA;

AUTOSOMAL RECESSIVE INHERITANCE; B LYMPHOCYTE; BRONCHIOLITIS; CASE REPORT; COMBINED IMMUNODEFICIENCY; CONTROLLED STUDY; COUGHING; DISSEMINATED INTRAVASCULAR CLOTTING; DNA SEQUENCE; FEVER; HEPATOSPLENOMEGALY; HUMAN; HUMAN CELL; INFANT; KOREA; LYMPHOCYTE COUNT; MALE; NATURAL KILLER CELL; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PERIPHERAL BLOOD MONONUCLEAR CELL; PNEUMONIA; POLYMERASE CHAIN REACTION; RECURRENT INFECTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REVIEW; SEPSIS; T LYMPHOCYTE; THRUSH;

ADULT; CODON, NONSENSE; FEMALE; HUMANS; INFANT; KOREA; MALE; RECEPTORS, INTERLEUKIN-7; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 9444282140     PISSN: 09255710     EISSN: None     Source Type: Journal    
DOI: 10.1532/IJH97.04026     Document Type: Review

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