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An update on the molecular analysis of classical galactosaemia patients diagnosed in Spain and Portugal: 7 new mutations in 17 new families
Actualización del análisis molecular de la galactosemia clásica en España y Portugal: 7 mutaciones nuevas en 17 nuevas familias
Laura Gorta,b,1, Ester Quintanaa,b,1, Sonia Molinera,b, Lidia González-Queredaa, Tania López-Hernándeza, Paz Brionesa,b,c,
Corresponding author
pbriones@clinic.ub.es

Autor para correspondencia.
a Institut de Bioquímica Clínica, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Barcelona, España
b CIBER de Enfermedades Raras (CIBERER), Barcelona, España
c Consejo Superior de Investigaciones Científicas, Barcelona, España
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ISSN: 00257753
Original language: English
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