DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency

Journal of Human Genetics

Volumn 47, Issue 11, 2002, Pages 620-622

  Cao, Henian ^a   Hegele, Robert A ^a  

^a ROBARTS RESEARCH INSTITUTE   (Canada)

Author keywords

Erythrocytes; Genomic DNA; Monogenic disease; Nucleotides; Sequencing

Indexed keywords

GENOMIC DNA; INOSINE TRIPHOSPHATE; NUCLEOTIDE; PROLINE; THREONINE;

ADULT; AFRICA; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CAUCASIAN; CHINESE; CHROMOSOME 20P; CODON; CONTROLLED STUDY; DISEASE MARKER; DNA POLYMORPHISM; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ERYTHROCYTE; FEMALE; GENE FREQUENCY; HOMOZYGOSITY; HUMAN; INDIA; INOSINE TRIPHOSPHATASE DEFICIENCY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MONOGENIC DISORDER; NORMAL HUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; SINGLE NUCLEOTIDE POLYMORPHISM; SYMPTOM; AFRICAN; INDIAN; INOSINE TRIPHOSPHATE DEFICIENCY;

EID: 0036952564     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380200095     Document Type: Article

References (9)

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