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4 - Bibliothèques de l'Université de Lorraine

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129. Alloisio N. ; Texier P. ; Vallier A. ; Ribeiro M.L. ; Morle L. ; Bozon<br />

M. ; Bursaux E. ; Maillet P. ; Goncalves P. ; Tanner M.J.A. ;<br />

Tamagnini G. ; Delaunay J.<br />

Modulation of c1inical expression and band 3 <strong>de</strong>ficiency in<br />

hereditary spherocytosis<br />

Blood 1997,90,414-420<br />

130. Ribeiro M.L. ; Alloisio N. ; Almeda H. ; Texier P. ; Lemos C. ;<br />

Minoso C. ; Morle L. ; Bey-Labet F. ; Rudigoz R.C. ; Delaunay J.<br />

Tamagnini G.<br />

Hereditary spherocytosis with total absence of band 3 in a<br />

baby with mutation Coimbra (V488M) in the homozygous state<br />

Blood 1997,90,265 a<br />

131. Jarolim P. ; Schayakul C. ; Prabakaran D. ; Jiang L. ; Stuart-Tilley<br />

A. ; Rubin H.L. ; Simova S. ; Zavadil J. ; Herrin J.T. ; Brouillette<br />

J. ; Somers M.J. ; Seemanova E. ; Brugnara C. ; Guay-Woodford<br />

L.M. ; Alper S.L.<br />

Autosomal dominant distal renal tubular acidosis in associated<br />

in three families with heterozygity for the R 589 H mutation<br />

in the AE1(3-3) CI-HC03 exchanger<br />

J Biol Chem 1998, 273,6380-6388<br />

132. Rysava R. ; Tesar V. ; Jirsa M. ; Brabec V. ; Jarolim P.<br />

Incomplete distal renal tubular acidosis coinherited with a<br />

mutation in band 3 (AE1) gene<br />

Nephrol Dial Transplant 1997, 12, 1869-1873<br />

133. Bruce L.S. ; Cope D.L. ; Jones G.K. ; Schofield M.E. : Burley M. :<br />

Pouey S. ; Unwin R.S. ; Wrong O. ; Tanner M.J.<br />

Familial distal renal tubular acidosis is associated with<br />

mutation in the red cell anion exchanger (band 3, AE1) gene<br />

J Clin Invest, 1997, 100, 1693-1707

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