Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants

Human Genetics

Volumn 129, Issue 1, 2011, Pages 71-78

  Sampat, Radhika ^a   Fu, Rong ^a   Larovere, Laura E ^b   Torres, Rosa J ^c   Ceballos Picot, Irene ^d   Fischbach, Michel ^e   De Kremer, Raquel ^b   Schretlen, David J ^f,g   Puig, Juan Garcia ^c   Jinnah, H A ^a  

^a EMORY UNIVERSITY   (United States)

^b UNIVERSIDAD NACIONAL DE CÓRDOBA   (Argentina)

^c UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e HÔPITAL DE HAUTEPIERRE   (France)

^f JOHNS HOPKINS UNIVERSITY   (United States)

^g JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ARGININE; GUANINE; HISTIDINE; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; ATTENTION; ATTENTION DEFICIT DISORDER; CHILD; CLINICAL ARTICLE; CLONUS; CONTROLLED STUDY; DYSTONIA; ENZYME ACTIVITY; ENZYME KINETICS; ENZYME STABILITY; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERREFLEXIA; IMPULSIVENESS; INTELLIGENCE QUOTIENT; LESCH NYHAN SYNDROME; MOTOR DYSFUNCTION; NEPHROLITHIASIS; NONHUMAN; ONSET AGE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SCHOOL CHILD; THERMOSTABILITY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; INFANT; INFANT, NEWBORN; LESCH-NYHAN SYNDROME; PHENOTYPE; POINT MUTATION; URIC ACID; YOUNG ADULT;

EID: 78651238833     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-010-0901-9     Document Type: Article

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