Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina

Human Mutation

Volumn 34, Issue 1, 2013, Pages 229-236

  Doimo, Mara ^a   Desbats, Maria Andrea ^a   Baldoin, Maria Cristina ^a   Lenzini, Elisabetta ^b   Basso, Giuseppe ^a   Murphy, Elaine ^c   Graziano, Claudio ^d   Seri, Marco ^d   Burlina, Alberto ^b   Sartori, Geppo ^a   Trevisson, Eva ^a   Salviati, Leonardo ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b UNIVERSITY HOSPITAL OF PADOVA   (Italy)

^c NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^d UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

AICAR; OAT; Vitamin B6; Yeast complementation

Indexed keywords

ORNITHINE OXOACID AMINOTRANSFERASE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHOROID GYRATE ATROPHY; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME STABILITY; FIBROBLAST; FUNGUS GROWTH; GENE; GENE DELETION; GENE EXPRESSION; HUMAN; HUMAN CELL; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; ONSET AGE; ORNITHINE OXOACID AMINOTRANSFERASE GENE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA GYRATE ATROPHY; SACCHAROMYCES CEREVISIAE; SCHOOL CHILD; YEAST;

AMINO ACID SEQUENCE; AMINOIMIDAZOLE CARBOXAMIDE; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; FIBROBLASTS; GENETIC COMPLEMENTATION TEST; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GYRATE ATROPHY; HEK293 CELLS; HUMANS; IMMUNOBLOTTING; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; ORNITHINE-OXO-ACID TRANSAMINASE; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; RIBONUCLEOTIDES; SACCHAROMYCES CEREVISIAE; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 84871612701     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22233     Document Type: Article

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