Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient

Clinical Genetics

Volumn 59, Issue 6, 2001, Pages 430-437

  Dalal, I ^a   Grunebaum, E ^a   Cohen, A ^a   Roifman, Chaim M ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Purine nucleoside phosphorylase; Severe combined immunodeficiency

Indexed keywords

AMINO ACID; CYTOSINE; MESSENGER RNA; NUCLEOSIDE PHOSPHORYLASE; THYMINE;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; COMBINED IMMUNODEFICIENCY; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; FATHER; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; IMMUNE DEFICIENCY; INTRON; MALE; MOTHER; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; RNA SPLICING; STOP CODON;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD, PRESCHOOL; DNA, COMPLEMENTARY; EXONS; FEMALE; HUMANS; INTRONS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; POINT MUTATION; PURINE-NUCLEOSIDE PHOSPHORYLASE; RECEPTORS, ANTIGEN, T-CELL, ALPHA-BETA; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 0034956862     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2001.590608.x     Document Type: Article

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