Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: Identification of 10 novel mutations and their structural and functional implications

Clinica Chimica Acta

Volumn 414, Issue , 2012, Pages 191-196

  Singh, Ramandeep ^a   Thapa, Babu R ^a   Kaur, Gurjit ^b   Prasad, Rajendra ^a  

^a POSTGRADUATE INSTITUTE OF MEDICAL EDUCATION AND RESEARCH   (India)

^b GOVERNMENT MEDICAL COLLEGE AND HOSPITAL   (India)

Author keywords

Galactose 1 phosphate uridyl transferase (GALT); Mutations; Single strand conformational polymorphism (SSCP); Sorting intolerant from tolerant (SIFT)

Indexed keywords

GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;

ARTICLE; CONTROLLED STUDY; FEMALE; GALACTOSEMIA; GALT GENE; GENE FUNCTION; GENE ONTOLOGY; GENE STRUCTURE; GENETIC IDENTIFICATION; HUMAN; HYDROGEN BOND; INDIAN; INFANT; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTANT; MUTATION RATE; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE; SILENT MUTATION; SINGLE NUCLEOTIDE POLYMORPHISM; SURFACE PROPERTY; WILD TYPE; CHEMISTRY; ENZYMOLOGY; GENETICS; INDIA; METABOLISM;

GALACTOSEMIAS; HUMANS; INDIA; INFANT; MUTATION, MISSENSE; UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;

EID: 84867288967     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2012.09.017     Document Type: Article

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