Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome

Human Genetics

Volumn 99, Issue 5, 1997, Pages 624-627

  Nonoyama, Shigeaki ^a,e   Shimadzu, Mitsunobu ^b   Toru, Hano ^e   Seyama, Kuniaki ^a   Nunoi, Hiroyuki ^c   Neubauer, Michael ^d   Yata, Jun Ichi ^e   Och, Hans D ^a  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b LSI MEDIENCE CORPORATION   (Japan)

^c THE UNIVERSITY OF TOKYO   (Japan)

^d BRISTOL MYERS SQUIBB   (United States)

^e TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GLYCOPROTEIN GP 39; IMMUNOGLOBULIN M; TUMOR NECROSIS FACTOR;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; FETUS; GENE DELETION; GENE MUTATION; HUMAN; HUMAN CELL; HYPERIMMUNOGLOBULINEMIA; IMMUNE DEFICIENCY; INTRON; MALE; MISSENSE MUTATION; NONSENSE MUTATION; POINT MUTATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RNA SPLICING; SINGLE STRAND CONFORMATION POLYMORPHISM; X CHROMOSOME LINKAGE;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; ANTIGENS, CD40; BASE SEQUENCE; CD40 LIGAND; CODON; CONSERVED SEQUENCE; DNA TRANSPOSABLE ELEMENTS; EXONS; HUMANS; HYPERGAMMAGLOBULINEMIA; IMMUNOGLOBULIN A; IMMUNOGLOBULIN M; JAPAN; MALE; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PRENATAL DIAGNOSIS; SEQUENCE DELETION; TUMOR NECROSIS FACTOR-ALPHA; X CHROMOSOME;

EID: 0030896801     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050417     Document Type: Article

References (15)

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