Novel genetic mutations responsible for the HPRT deficiency and the clinical phenotypes in Japanese

Advances in Experimental Medicine and Biology

Volumn 486, Issue , 2000, Pages 29-33

  Yamada, Y ^a   Nomura, N ^a   Kitoh, H ^a   Wakamatsu, N ^a   Ogasawara, N ^a  

^a INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CONFERENCE PAPER; ENZYME DEFICIENCY; GENE DELETION; GENE MUTATION; HUMAN; JAPAN; LESCH NYHAN SYNDROME; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PRIORITY JOURNAL;

AGED; EXONS; GOUT; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; JAPAN; LESCH-NYHAN SYNDROME; MALE; MUTATION; MUTATION, MISSENSE; PHENOTYPE; POINT MUTATION;

EID: 0034472404     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Conference Paper

References (14)

1. Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis
2. A specific enzyme defect in gout associated with overproduction of uric acid
3. Hypoxanthine-guanine phosphofibosyltransferase variants: Correlation of clinical phenotype with enzyme activity
4. The spectrum of HGPRT deficiency: Clinical experience based 20 patients from Spanish families
5. A familial disorder of uric acid and central nervous system function
6. A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency
7. Molecular analysis of a female Lesch-Nyhan patient
8. Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency
9. Molecular genetic study of a Japanese family with Lesch-Nyhan syndrome: A point mutation at the consensus region of RNA splicing (HPRTKeio)
10. Partial hypoxanthine-guanine phosphoribosyltransferase deficiency in two Korean siblings - A new mutation
11. Molecular mechanisms of the second female Lesch-Nyhan patient
12. Molecular analysis of a Japanese family with Lesch-Nyhan syndrome: Identification of mutation and prenatal diagnosis
13. A novel de novo mutation in HPRT gene responsible for Lesch-Nyhan syndrome (HPRTOsaka)
14. Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome