Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers.
Morrone
A
A
Department of Paediatrics, Florence, Italy.
Cavicchi
C
C
Bardelli
T
T
Antuzzi
D
D
Parini
R
R
Di Rocco
M
M
Feriozzi
S
S
Gabrielli
O
O
Barone
R
R
Pistone
G
G
Spisni
C
C
Ricci
R
R
Zammarchi
E
E
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D004303:Dosage Compensation, Genetic; D000795:Fabry Disease / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D020868:Gene Silencing; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D010375:Pedigree; D000519:alpha-Galactosidase / Q000235:genetics
D000519:alpha-Galactosidase