Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder

Brain

Volumn 137, Issue 5, 2014, Pages 1282-1303

  Fu, Rong ^a   Ceballos Picot, Lrene ^b   Rosa, Jorres ^c   Larovere, Laura E ^d   Yamada, Yasukazu ^e   Nguyen, Khue V ^f   Hegde, Mahuri ^a   Visser, Jasper E ^g,h   Schretlen, David J ⁱ   Nyhan, William L ^f   Puig, Juan G ^c   O'Neill, Patrick J ^j   Jinnah, H A ^a  

^a EMORY UNIVERSITY   (United States)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^d UNIVERSIDAD NACIONAL DE CÓRDOBA   (Argentina)

^e INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g RADBOUD UNIVERSITY   (Netherlands)

^h AMPHIA HOSPITAL   (Netherlands)

ⁱ JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j UNIVERSITY OF VERMONT   (United States)

more..

Author keywords

genotype phenotype correlations; Lesch Nyhan disease; neurogenetics

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE;

ENZYME ACTIVITY; GENE MUTATION; GENE PRODUCT; GENETIC DISORDER; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LESCH NYHAN SYNDROME; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

GENOTYPE-PHENOTYPE CORRELATIONS; LESCH-NYHAN DISEASE; NEUROGENETICS;

ANIMALS; GENETIC ASSOCIATION STUDIES; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LESCH-NYHAN SYNDROME; MUTATION;

EID: 84899835442     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awt202     Document Type: Review

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