M. Garbarz

Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation.

Garbarz, M, Tse, W T, Gallagher, P G, Picat, C, Lecomte, M C, Galibert, F, ...

The molecular defect responsible for the shortened beta-spectrin chain variant, spectrin Rouen, was identified by analysis of cDNA and genomic DNA of affected individuals after amplification by the...

Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association.

Tse, W T, Lecomte, M C, Costa, F F, Garbarz, M, Feo, C, Boivin, P, ...

alpha I/74 hereditary elliptocytosis (HE) is a subgroup of HE in which patients exhibit an impaired self-association of spectrin dimers and an abnormal proteolytic cleavage of the alpha I domain of...

Spectrin beta-chain variant associated with hereditary elliptocytosis.

Dhermy, D, Lecomte, M C, Garbarz, M, Bournier, O, Galand, C, Gautero, H, ...

An electrophoretically fast-moving variant of the spectrin beta-chain was discovered in the erythrocyte membranes of a woman and her father who both exhibited elliptocytosis and mild hemolytic...

A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin.

Gallagher, P G, Tse, W T, Coetzer, T, Lecomte, M C, Garbarz, M, Zarkowsky, H S, ...

We studied nine individuals from five unrelated families with alpha I/46-50a hereditary elliptocytosis (HE) or hereditary pyropoikilocytosis (HPP), including one of the original HHP probands first...

A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis.

Jenkins, P B, Abou-Alfa, G K, Dhermy, D, Bursaux, E, Féo, C, Scarpa, A L, ...

We studied a French kindred with typical hereditary spherocytosis (HS). Studies of erythrocytes and erythrocyte membranes from HS individuals revealed abnormal erythrocyte membrane mechanical...

Fast screening methods to detect mutations of spectrin in subjects with hereditary elliptocytosis.

Boulanger, L, LeCompte, M C, Dhermy, D, Garbarz, M

Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation.

Garbarz, M, Tse, W T, Gallagher, P G, Picat, C, Lecomte, M C, Galibert, F, ...

The molecular defect responsible for the shortened beta-spectrin chain variant, spectrin Rouen, was identified by analysis of cDNA and genomic DNA of affected individuals after amplification by the...

Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association.

Tse, W T, Lecomte, M C, Costa, F F, Garbarz, M, Feo, C, Boivin, P, ...

alpha I/74 hereditary elliptocytosis (HE) is a subgroup of HE in which patients exhibit an impaired self-association of spectrin dimers and an abnormal proteolytic cleavage of the alpha I domain of...

Spectrin beta-chain variant associated with hereditary elliptocytosis.

Dhermy, D, Lecomte, M C, Garbarz, M, Bournier, O, Galand, C, Gautero, H, ...

An electrophoretically fast-moving variant of the spectrin beta-chain was discovered in the erythrocyte membranes of a woman and her father who both exhibited elliptocytosis and mild hemolytic...

A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin.

Gallagher, P G, Tse, W T, Coetzer, T, Lecomte, M C, Garbarz, M, Zarkowsky, H S, ...

We studied nine individuals from five unrelated families with alpha I/46-50a hereditary elliptocytosis (HE) or hereditary pyropoikilocytosis (HPP), including one of the original HHP probands first...

A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis.

Jenkins, P B, Abou-Alfa, G K, Dhermy, D, Bursaux, E, Féo, C, Scarpa, A L, ...

We studied a French kindred with typical hereditary spherocytosis (HS). Studies of erythrocytes and erythrocyte membranes from HS individuals revealed abnormal erythrocyte membrane mechanical...

Fast screening methods to detect mutations of spectrin in subjects with hereditary elliptocytosis.

Boulanger, L, LeCompte, M C, Dhermy, D, Garbarz, M

Anti-spectrin in sera containing smooth muscle autoantibodies from patients with chronic active hepatitis.

Garbarz, M, Dhermy, D, Bournier, O, Bezeaud, A, Boivin, P

Sera from patients with chronic active hepatitis containing anti-smooth muscle autoantibodies (SMA) react against rabbit muscle actin as well as human red cell spectrin. These anti-spectrin...