Kolexia
Lacan Philippe
Pharmacien
Pharmacie Chazeau-monard
Pfastatt, France
28 Activités
0 Followers

Scientifique
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{{person.topmesh1.name}} Hémoglobinopathies Alpha-Thalassémie Drépanocytose Bêta-Thalassémie Thalassémie Déficit en alpha-1-antitrypsine Delta-Thalassémie Syndrome thoracique aigu Maladie de Gilbert

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AstraZeneca
1 collaboration(s)
Dernière en 2019
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Dernières activités

Genetic Background of the Sickle Cell Disease Pediatric Population of Dakar, Senegal, and Characterization of a Novel Frameshift β-Thalassemia Mutation HBB: c.265_266del; p.Leu89Glufs*2.
Hemoglobin   03 juillet 2017
UGT1A1 (TA) genotype is not the major risk factor of cholelithiasis in sickle cell disease children.
European journal of haematology   09 janvier 2017
A New Intergenic α-Globin Deletion (α-αΔ125) Found in a Kabyle Population.
Hemoglobin   13 décembre 2016
Hb Hope β136Gly→Asp and Hb Grady α119_120insGluPheThr compound heterozygosity in a Mauritanian patient.
Clinical chemistry and laboratory medicine   06 octobre 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.
Hemoglobin   23 juin 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.
Hemoglobin   05 décembre 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.
Hemoglobin   10 octobre 2013
Molecular characterization of 7 new alpha-1 anti-trypsin (A1AT) variants including two with an associated deficient phenotype.
Clinica chimica acta; international journal of clinical chemistry   29 septembre 2013
UGT1A1 (TA)n genotyping in sickle-cell disease: high resolution melting (HRM) curve analysis or direct sequencing, what is the best way?
Clinica chimica acta; international journal of clinical chemistry   01 juillet 2013
Two complex associations of an HBD mutation and a rare α hemoglobinopathy.
Hemoglobin   27 juin 2013