Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families.

Human mutation

Volumn 15, Issue 4, 2000, Pages 383-

  Torres, R J ^a   Mateos, F A ^a   Molano, J ^a   Gathoff, B S ^a   O'Neill, J P ^a   Gundel, R M ^a   Trombley, L ^a   Puig, J G ^a  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE;

ALTERNATIVE RNA SPLICING; ARTICLE; ENZYMOLOGY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION REGULATION; GENETICS; HETEROZYGOTE DETECTION; HUMAN; LESCH NYHAN SYNDROME; POINT MUTATION; PREGNANCY; PRENATAL DIAGNOSIS; SPAIN;

ALTERNATIVE SPLICING; EXONS; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOTE DETECTION; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LESCH-NYHAN SYNDROME; MUTAGENESIS, INSERTIONAL; POINT MUTATION; PREGNANCY; PRENATAL DIAGNOSIS; SEQUENCE DELETION; SPAIN;

MLCS; MLOWN;

EID: 0034164474     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(200004)15:4<383::aid-humu17>3.0.co;2-2     Document Type: Article

References (0)