Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene

Human Mutation

Volumn 33, Issue 7, 2012, Pages 1107-1115

  Tang, Manshu ^a   Facchiano, Angelo ^b   Rachamadugu, Rakesh ^a   Calderon, Fernanda ^c   Mao, Rong ^c   Milanesi, Luciano ^d   Marabotti, Anna ^d   Lai, Kent ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b CNR   (Italy)

^c ARUP LABORATORIES   (United States)

^d INSTITUTE OF BIOMEDICAL TECHNOLOGIES   (Italy)

Author keywords

Galactosemia; GALT; Heterologous expression; Molecular modeling

Indexed keywords

GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;

ARTICLE; ESCHERICHIA COLI; GALACTOSEMIA; GENETIC VARIABILITY; HUMAN; IN VITRO STUDY; KINETICS; MOLECULAR MODEL; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN STRUCTURE;

GENETIC VARIATION; HUMANS; MOLECULAR DYNAMICS SIMULATION; MUTAGENESIS, SITE-DIRECTED; PHENOTYPE; UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;

ESCHERICHIA COLI;

EID: 84861886186     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22093     Document Type: Article

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