4 - Bibliothèques de l'Université de Lorraine

4 - Bibliothèques de l'Université de Lorraine 4 - Bibliothèques de l'Université de Lorraine

docnum.univ.lorraine.fr
from docnum.univ.lorraine.fr More from this publisher
29.12.2013 Views

114. Okamoto N. ; Wada Y. ; Nakamura Y. ; Nakayama M. ; Chiyo N. ; Murayama K. ; Inoue T. ; Kanzaki A. ; Yaouata Y. ; Hirono A. ; MiwaJ. Hereditary spherocytic anemia with deletion of the short arm of the chromosom 8 Am J Med Genet 1995,58,225-229 115. Tse W.T. ; Gallagher P.G. ; Jenkins P.B. ; Wang Y. ; Benoit L. ; 5peicher D. ; Winkelmann J.C. ; Agre P. ; Forget B.G. ; Marchesi J.L. Aminoacid substitution in alpha-spectrin commonly co-inherited with non dominant hereditary spherocytosis Am J Hematol1997, 54, 233-241 116. Wichterle H. ; Hanspal M. ; Palek J. ; Jarolim P. Combination of two mutant alpha-spectrin alleles underlies a severe spherolytic hemolytic anemia J Clin Invest 1996, 98,2300-2307 117. Becker P.J. ; Tse W.T. ; Lux 5.E. ; Forget B.G. Beta-spectrine Kissimee : spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1 J Clin Invest 1993,92,612-616 118. Hassoun H. ; Vassi Iiadis J.N. ; Murray J. ; Yi J.J. ; Hanspal M. ; Ware R.E. ; Winter 5.J. ; Chiou S.S. ; Mialek J. Molecular basis of spectrin deficiency in beta-spectrin Durham a deletion with beta-spectrin adjacent to the ankyrin binding site precludes spectrin attachement to the membran in hereditary spherocytosis J Clin Invest 1995, 96, 2623-2629

119. Hanspal M. ; Youn J.H. ; Yu H. ; Hanspal J.S. ; Lambert S. ; Palek J. ; Prchal J.T. Molecular basis in spectrin and ankyrin deficiencis in severe hereditary spherocytosis : evidence implïcating a primary defect of ankyrin Blood 1991,77,165-173 120. Miraglia Del Giudice E. ; Perotta S. ; Lombardi C. ; Iolascon A. Decision making at the bedside : diagnosis of hereditary spherocytosis in a transfused infant A haematologica 1998, 83, 347-349 121. Eber S.W. ; Gonzales J.M. ; Lux M.L. ; Scarpa A.L. ; Tse W.T. ; Dornwell M. ; Hebers J. ; Kugler W. ; Forget B.G. ; Lux S.E. Ankyrin-l mutation is major cause of dominant and recessiv hereditary spherocytosis Nat Genet 1996, 13, 214-215 122. Lanciotti M. ; Perutelli P. ; Valetto A. ; Dimartino D. ; Morri P.G. Ankyrin deficiency in the most common defect in dominant and non dominant hereditary spherocytosis Haematologica 1997, 82, 460-462 123. Kanzaki A. ; Takezono M. ; Kaku M. ; Yawata A. ; Ozcan R. ; Kugler W. ; Eber S.W. ; Yawata Y. Molecular and genetic characteristics in japanese patients with hereditary spherocytosis frequent band 3 mutations and rarer ankyrin mutation Blood 1997,90 Suppl 1, 66-76

114. Okamoto N. ; Wada Y. ; Nakamura Y. ; Nakayama M. ; Chiyo N. ;<br />

Murayama K. ; Inoue T. ; Kanzaki A. ; Yaouata Y. ; Hirono A. ;<br />

MiwaJ.<br />

Hereditary spherocytic anemia with <strong>de</strong>letion of the short arm<br />

of the chromosom 8<br />

Am J Med Genet 1995,58,225-229<br />

115. Tse W.T. ; Gallagher P.G. ; Jenkins P.B. ; Wang Y. ; Benoit L. ;<br />

5peicher D. ; Winkelmann J.C. ; Agre P. ; Forget B.G. ; Marchesi<br />

J.L.<br />

Aminoacid substitution in alpha-spectrin commonly co-inherited<br />

with non dominant hereditary spherocytosis<br />

Am J Hematol1997, 54, 233-241<br />

116. Wichterle H. ; Hanspal M. ; Palek J. ; Jarolim P.<br />

Combination of two mutant alpha-spectrin alleles un<strong>de</strong>rlies a<br />

severe spherolytic hemolytic anemia<br />

J Clin Invest 1996, 98,2300-2307<br />

117. Becker P.J. ; Tse W.T. ; Lux 5.E. ; Forget B.G.<br />

Beta-spectrine Kissimee : spectrin variant associated with<br />

autosomal dominant hereditary spherocytosis and <strong>de</strong>fective<br />

binding to protein 4.1<br />

J Clin Invest 1993,92,612-616<br />

118. Hassoun H. ; Vassi Iiadis J.N. ; Murray J. ; Yi J.J. ; Hanspal M. ;<br />

Ware R.E. ; Winter 5.J. ; Chiou S.S. ; Mialek J.<br />

Molecular basis of spectrin <strong>de</strong>ficiency in beta-spectrin Durham<br />

a <strong>de</strong>letion with beta-spectrin adjacent to the ankyrin binding<br />

site preclu<strong>de</strong>s spectrin attachement to the membran in<br />

hereditary spherocytosis<br />

J Clin Invest 1995, 96, 2623-2629

Hooray! Your file is uploaded and ready to be published.

Saved successfully!

Ooh no, something went wrong!