Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency

Human Mutation

Volumn 8, Issue 4, 1996, Pages 369-372

  Maceratesi, Patrizia ^a   Sangiuolo, Federica ^a   Novelli, Giuseppe ^b   Ninfali, Paolino ^b   Magnani, Mauro ^b   Reichardt, Juergen K V ^c   Dallapiccola, Bruno ^a  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b UNIVERSITY OF URBINO   (Italy)

^c UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;

ARTICLE; CLINICAL ARTICLE; DNA SEQUENCE; ENZYME DEFICIENCY; GALACTOSEMIA; GENE AMPLIFICATION; GENE MUTATION; HUMAN; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY;

ERYTHROCYTES; FRAMESHIFT MUTATION; GALACTOSEMIAS; HUMANS; ITALY; POINT MUTATION; POLYMORPHISM, GENETIC; UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;

EID: 0029839581     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:4<369::AID-HUMU12>3.0.CO;2-0     Document Type: Article

References (11)

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