Partial HPRT deficiency phenotype and incomplete splicing mutation

Nucleosides, Nucleotides and Nucleic Acids

Volumn 29, Issue 4-6, 2010, Pages 295-300

  Torres, R J ^a   Garcia, M G ^a   Puig, J G ^a  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

HPRT; Lesch Nyhan syndrome; molecular diagnosis; splicing

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; MESSENGER RNA;

ADOLESCENT; AGAR GEL ELECTROPHORESIS; ARTICLE; CASE REPORT; CEREBRAL PALSY; DYSTONIA; ENZYME DEFICIENCY; EXON; EXON SKIPPING; GENE AMPLIFICATION; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERURICEMIA; LESCH NYHAN SYNDROME; MALE; PHENOTYPE; PURINE METABOLISM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SPLICING DEFECT; WHEELCHAIR;

ADOLESCENT; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LESCH-NYHAN SYNDROME; MALE; MUTATION; PHENOTYPE; RNA SPLICING;

EID: 77953708315     PISSN: 15257770     EISSN: 15322335     Source Type: Journal    
DOI: 10.1080/15257771003730250     Document Type: Article

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