HPRT deficiency: Identification of twenty-four novel variants including an unusual deep intronic mutation

Nucleosides, Nucleotides and Nucleic Acids

Volumn 30, Issue 12, 2011, Pages 1260-1265

  Corrigan, A ^a   Arenas, M ^a   Escuredo, E ^a   Fairbanks, L ^a   Marinaki, A ^a  

^a ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

HPRT; Lesch Nyhan Syndrome; Mutation

Indexed keywords

AMINO ACID; DNA BASE; GENOMIC DNA; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE;

AMINO ACID SUBSTITUTION; ARTICLE; DNA DETERMINATION; DNA FLANKING REGION; DNA SEQUENCE; EXON; FAMILY; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC VARIABILITY; GENOME ANALYSIS; HETEROZYGOTE DETECTION; HUMAN; INTRON; LESCH NYHAN SYNDROME; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PHENOTYPE; SPLICING DEFECT;

BASE SEQUENCE; EXONS; FEMALE; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; INTRONS; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE;

EID: 84855868545     PISSN: 15257770     EISSN: 15322335     Source Type: Journal    
DOI: 10.1080/15257770.2011.590172     Document Type: Article

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