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We describe the first known association between autosomal dominant polycystic kidney disease (ADPKD) and alpha-4.2 thalassemia in a Caucasian family. Linkage studies have been carried out using two probes (3'HVR and 24-1) linked to ADPKD on locus PKD1 and two probes (alpha 1-PstI and BamH-I/EcoRI-zeta 2 fragment) allowing detection of alpha-thalassemia with either a 3.7-kb deletion or a 4.2-kb deletion. Our results show that to avoid misinterpretation it is important to investigate the occurrence of an alpha-gene deletion when polymorphisms situated in the alpha-globin locus are used for linkage studies on ADPKD. The studied family is one of the rare cases of leftward deletional thalassemia described in a non-Asian population.
M C Vinet, and
C Dodé, and
O Pascal, and
N Monnier, and
J Rochette, and
L Bachner
January 1996,
Przeglad lekarski,
M C Vinet, and
C Dodé, and
O Pascal, and
N Monnier, and
J Rochette, and
L Bachner
September 2014,
American family physician,
M C Vinet, and
C Dodé, and
O Pascal, and
N Monnier, and
J Rochette, and
L Bachner
July 1992,
Deutsche medizinische Wochenschrift (1946),
M C Vinet, and
C Dodé, and
O Pascal, and
N Monnier, and
J Rochette, and
L Bachner
March 2010,
Advances in chronic kidney disease,
M C Vinet, and
C Dodé, and
O Pascal, and
N Monnier, and
J Rochette, and
L Bachner
March 2019,
Lancet (London, England),
M C Vinet, and
C Dodé, and
O Pascal, and
N Monnier, and
J Rochette, and
L Bachner
May 1994,
BMJ (Clinical research ed.),
M C Vinet, and
C Dodé, and
O Pascal, and
N Monnier, and
J Rochette, and
L Bachner
January 2006,
Duodecim; laaketieteellinen aikakauskirja,
M C Vinet, and
C Dodé, and
O Pascal, and
N Monnier, and
J Rochette, and
L Bachner
January 2003,
Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia,
M C Vinet, and
C Dodé, and
O Pascal, and
N Monnier, and
J Rochette, and
L Bachner
February 2016,
BMJ (Clinical research ed.),
M C Vinet, and
C Dodé, and
O Pascal, and
N Monnier, and
J Rochette, and
L Bachner
December 2020,
Primary care,
