B. Pothier

发表

Two elliptocytogenic alpha I/74 variants of the spectrin alpha I domain. Spectrin Culoz (GGT----GTT; alpha I 40 Gly----Val) and spectrin Lyon (CTT----TTT; alpha I 43 Leu---Phe).

F. Morlé, J. Starck, L. Denoroy, 1990, The Journal of clinical investigation.

Occurrence of the αI 22 Arg→His (CGT→CAT) spectrin mutation in Tunisia: potential association with severe elliptopoikilocytosis

L. Morlé, J. Delaunay, N. Alloisio, 1991, British journal of haematology.

Reduction of membrane band 7 and activation of volume stimulated (K+, Cl−)‐cotransport in a case of congenital stomatocytosis

J. Delaunay, C. Féo, L. Morlé, 1989, British journal of haematology.

An insertional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin nice (beta 220/216)

F. Costa, B. Forget, P. Gallagher, 1991 .

Spα1/65 hereditary elliptocytosis in North Africa

M. Clerc, J. Delaunay, N. Alloisio, 1986 .

The red cell skeleton and its genetic disorders.

J. Delaunay, N. Alloisio, B. Pothier, 1990, Molecular aspects of medicine.

Spectrin Nice (beta 220/216): a shortened beta-chain variant associated with an increase of the alpha I/74 fragment in a case of elliptocytosis.

C. Féo, M. Lecomte, D. Dhermy, 1987, Blood.

Assignment of Sp alpha I/74 hereditary elliptocytosis to the alpha- or beta-chain of spectrin through in vitro dimer reconstitution.

J. Delaunay, N. Alloisio, N. Philippe, 1990, Blood.

Sp alpha V/41: a common spectrin polymorphism at the alpha IV-alpha V domain junction. Relevance to the expression level of hereditary elliptocytosis due to alpha-spectrin variants located in trans.

J. Delaunay, N. Alloisio, F. Baklouti, 1991, The Journal of clinical investigation.

Spectrin Oran (alpha II/21), a new spectrin variant concerning the alpha II domain and causing severe elliptocytosis in the homozygous state.

J. Delaunay, J. Delaunay, N. Alloisio, 1988, Blood.

Aberrant pattern of red cell membrane and cytosolic proteins in a case of congenital dyserythropoietic anaemia

J. Cartron, P. Boivin, J. Delaunay, 1987, British journal of haematology.

Red cell membrane alteration involving protein 4.1 and protein 3 in a case of recessively inherited haemolytic anaemia

C. Féo, P. Boivin, J. Delaunay, 1987, European journal of haematology.

Spectrin Tunis ( a ’ 78 ) : A New at Variant That Causes Asymptomatic Hereditary Elliptocytosis in the Heterozygous State

J. Delaunay, N. Alloisio, B. Pothier, 2022 .

Spa V / 41 : a Common Spectrin Polymorphism at the alV-aV Domain Junction Relevance to the Expression Level of Hereditary Elliptocytosis Due to a-Spectrin Variants Located in trans

J. Delaunay, N. Alloisio, F. Baklouti, 2022 .

A haemolytic syndrome associated with the complete absence of red cell membrane protein 4.2 in two Tunisian siblings

C. Féo, J. Delaunay, N. Alloisio, 1990, British journal of haematology.

Spectrin Tunis (alpha I/78): a new alpha I variant that causes asymptomatic hereditary elliptocytosis in the heterozygous state.

J. Delaunay, N. Alloisio, R. Kastally, 1988, Blood.

An insertional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin nice (beta 220/216).

F. Costa, B. Forget, P. Gallagher, 1991, Blood.

Two Elliptocytogenic ai 174 Variants of the Spectrin al domain Spectrin Culoz ( GGT-RGTT ; al 40 Gly-oVal ) and Spectrin Lyon ( CTT-- ' TTT ; al 43 Leu-* Phe )

J. Starck, B. Forget, R. Rudigoz, 2022 .