Direct evidence of autosomal recessive inheritance of Arg24 to termination codon in purine nucleoside phosphorylase gene in a family with a severe combined immunodeficiency patient

Human Genetics

Volumn 103, Issue 1, 1998, Pages 81-85

  Sasaki, Yuko ^a   Iseki, Mikiro ^b   Yamaguchi, Shinya ^c   Kurosawa, Yoshihiro ^d   Yamamoto, Tetsuya ^e   Moriwaki, Yuji ^e   Kenri, Tsuyoshi ^a   Sasaki, Tsuguo ^a   Yamashita, Ryoko ^c  

^a NATIONAL INSTITUTE OF INFECTIOUS DISEASES   (Japan)

^b Tokyo Metropolitan Ohtsuka Hospital   (Japan)

^c KITASATO INSTITUTE HOSPITAL   (Japan)

^d KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e HYOGO COLLEGE OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

PURINE NUCLEOSIDE PHOSPHORYLASE;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BONE MARROW TRANSPLANTATION; CASE REPORT; CHROMOSOME 14Q; CODON; COMBINED IMMUNODEFICIENCY; EXON; GENE; GENE SEQUENCE; GENETIC ANALYSIS; HEMOLYSATE; HUMAN; IMMUNOBLOTTING; MALE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; STOP CODON; T LYMPHOCYTE;

AMINO ACID SEQUENCE; ARGININE; BASE SEQUENCE; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 14; CODON, TERMINATOR; CONSANGUINITY; DNA PRIMERS; ERYTHROCYTES; EXONS; FEMALE; GENES, RECESSIVE; GLYCINE; HETEROZYGOTE DETECTION; HISTIDINE; HUMANS; MALE; NUCLEAR FAMILY; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; PURINE-NUCLEOSIDE PHOSPHORYLASE; SERINE; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 0031685161     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050787     Document Type: Article

References (21)

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