TY  - GEN
AU  - Rodríguez-Marí,Adriana
AU  - Coll,M José
AU  - Chabás,Amparo
TI  - Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female
SN  - 1098-1004
PY  - 2003///1027
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - Fabry Disease
KW  - enzymology
KW  - Female
KW  - Genetic Carrier Screening
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Spain
KW  - epidemiology
KW  - alpha-Galactosidase
KW  - genetics
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.9172
ER  -