Alain Francina

Laboratoire De Biochimie Et Biologie Moléculaire Grand Est, Hospices Civils De Lyon
Lyon, France

Last Updated: 09/26/2026

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Found 20 publications

SERPINA1 and MAN1B1 polymorphisms are not linked to severe liver disease in a French cohort of alpha-1 antitrypsin deficiency children.

SERPINA1 and MAN1B1 polymorphisms are not linked to severe liver disease in a French cohort of alpha-1 antitrypsin deficiency children.

Journal: Liver international : official journal of the International Association for the Study of the Liver
Published: July 06, 2017

Hypermethylation of 28S ribosomal RNA in β-thalassemia trait carriers.

Hypermethylation of 28S ribosomal RNA in β-thalassemia trait carriers.

Journal: International journal of biological macromolecules
Published: August 03, 2016

Description of Three New α Variants and Four New β Variants: Hb Montluel [α110(G17)Ala → Val; HBA1: c.332C > T], Hb Cap d'Agde [α131(H14)Ser → Cys; HBA2: c.395C > G] and Hb Corsica [α100(G7)Leu → Pro; HBA1: 302T > C]; Hb Nîmes [β104(G6)Arg → Gly; HBB: c.313A > G], Hb Saint Marcellin [β112(G14)Cys → Gly; HBB: c.337T > G], Hb Saint Chamond [β80(EF4)Asn → 0; HBB: c.241_243delAAC] and Hb Dompierre [β29(B11)Gly → Arg; HBB: c.88G > C].

Description of Three New α Variants and Four New β Variants: Hb Montluel [α110(G17)Ala → Val; HBA1: c.332C > T], Hb Cap d'Agde [α131(H14)Ser → Cys; HBA2: c.395C > G] and Hb Corsica [α100(G7)Leu → Pro; HBA1: 302T > C]; Hb Nîmes [β104(G6)Arg → Gly; HBB: c.313A > G], Hb Saint Marcellin [β112(G14)Cys → Gly; HBB: c.337T > G], Hb Saint Chamond [β80(EF4)Asn → 0; HBB: c.241_243delAAC] and Hb Dompierre [β29(B11)Gly → Arg; HBB: c.88G > C].

Journal: Hemoglobin
Published: June 24, 2015

Clinical heterogeneity and potential high pathogenicity of the Mmalton Alpha 1 antitrypsin allele at the homozygous, compound heterozygous and heterozygous states.

Clinical heterogeneity and potential high pathogenicity of the Mmalton Alpha 1 antitrypsin allele at the homozygous, compound heterozygous and heterozygous states.

Journal: Orphanet journal of rare diseases
Published: June 04, 2015

G6PD deficiency and absence of α-thalassemia increase the risk for cerebral vasculopathy in children with sickle cell anemia.

G6PD deficiency and absence of α-thalassemia increase the risk for cerebral vasculopathy in children with sickle cell anemia.

Journal: European journal of haematology
Published: February 19, 2015

A new hemoglobin variant: Hb Meylan [β73(E17)Asp → Phe; HBB: c.220G>T; c.221A>T] with a double base mutation at the same codon.

A new hemoglobin variant: Hb Meylan [β73(E17)Asp → Phe; HBB: c.220G>T; c.221A>T] with a double base mutation at the same codon.

Journal: Hemoglobin
Published: December 06, 2014

DEFI-ALPHA cohort and POLYGEN DEFI-ALPHA clinical research hospital programme. A study about clinical, biological and genetics factors associated with the occurrence and the evolution of hepatic complications in children with alpha-1 antitrypsin deficiency

DEFI-ALPHA cohort and POLYGEN DEFI-ALPHA clinical research hospital programme. A study about clinical, biological and genetics factors associated with the occurrence and the evolution of hepatic complications in children with alpha-1 antitrypsin deficiency

Journal: Revue des maladies respiratoires
Published: October 13, 2014

Description of the phenotypes of 63 heterozygous, homozygous and compound heterozygous patients carrying the Hb Groene Hart [α119(H2)Pro→Ser; HBA1: c.358C>T] variant.

Description of the phenotypes of 63 heterozygous, homozygous and compound heterozygous patients carrying the Hb Groene Hart [α119(H2)Pro→Ser; HBA1: c.358C>T] variant.

Journal: Hemoglobin
Published: October 12, 2013

Molecular characterization of 7 new alpha-1 anti-trypsin (A1AT) variants including two with an associated deficient phenotype.

Molecular characterization of 7 new alpha-1 anti-trypsin (A1AT) variants including two with an associated deficient phenotype.

Journal: Clinica chimica acta; international journal of clinical chemistry
Published: September 11, 2013

Massive haemolysis and methaemalbuminaemia in a patient with decompensated haemoglobin H disease.

Massive haemolysis and methaemalbuminaemia in a patient with decompensated haemoglobin H disease.

Journal: British journal of haematology
Published: August 13, 2013

Two complex associations of an HBD mutation and a rare α hemoglobinopathy.

Two complex associations of an HBD mutation and a rare α hemoglobinopathy.

Journal: Hemoglobin
Published: June 29, 2013

Two new δ-globin gene variants: Hb A(2)-Saint-Etienne [δ14(A11)Leu→Pro (HBD: c.44T>C)] and Hb A(2)-Marseille [δ22(B4) Ala→Lys (HBD: c.67G>A;68C>A)].

Two new δ-globin gene variants: Hb A(2)-Saint-Etienne [δ14(A11)Leu→Pro (HBD: c.44T>C)] and Hb A(2)-Marseille [δ22(B4) Ala→Lys (HBD: c.67G>A;68C>A)].

Journal: Hemoglobin
Published: December 12, 2012
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Last Updated: 09/26/2026