An update on the molecular analysis of classical galactosaemia patients diagnosed in Spain and Portugal: 7 new mutations in 17 new families

Medicina Clinica

Volumn 132, Issue 18, 2009, Pages 709-711

  Briones, Paz ^a,b,c   Gort, Laura ^a,b   Quintana, Ester ^a,b   Moliner, Sonia ^a,b   González Quereda, Lidia ^a   López Hernández, Tania ^a  

^a HOSPITAL CLÍNIC   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c CSIC   (Spain)

Author keywords

Classical galactosaemia; Metabolic disorder; Mutations

Indexed keywords

GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;

ARTICLE; CONTROLLED STUDY; GALACTOSEMIA; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; PORTUGAL; SPAIN;

GALACTOSEMIAS; HUMANS; MUTATION; PORTUGAL; SPAIN;

EID: 67349180709     PISSN: 00257753     EISSN: 15788989     Source Type: Journal    
DOI: 10.1016/j.medcli.2008.11.031     Document Type: Article

References (5)

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