Hypoxanthine-guanine phosphoribosylotransferase deficiency - The spectrum of Polish mutations

Journal of Inherited Metabolic Disease

Volumn 31, Issue SUPPL. 2, 2008, Pages

  Jurecka, A ^a   Popowska, E ^a   Tylki Szymanska, A ^a   Kubalska, J ^b   Ciara, E ^a   Krumina, Z ^c   Sykut Cegielska, J ^a   Pronicka, E ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^c CHILDREN'S CLINICAL UNIVERSITY HOSPITAL   (Latvia)

Author keywords

[No Author keywords available]

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE;

ARTICLE; FEMALE; GENETIC PREDISPOSITION; GENETICS; HUMAN; LATVIA; LESCH NYHAN SYNDROME; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLAND;

DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LATVIA; LESCH-NYHAN SYNDROME; MALE; MUTATION; PHENOTYPE; POLAND;

EID: 84855584219     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-1013-8     Document Type: Article

References (19)

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