Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Nicole, Couprie"'
Autor:
Philippe Lacan, Aurélie Desbrée, Alain Francina, Caroline Garcia, Philippe Joly, Nicole Couprie
Publikováno v:
Hemoglobin. 37:80-84
We report two new variants of the δ-globin gene: Hb A(2)-Saint-Etienne [δ14(A11)Leu→Pro] and Hb A(2)-Marseille [δ22(B4)Ala→Lys]. The first variant has a low rate of expression, the second results from a double nucleotide mutation on the same c
Autor:
Caroline Garcia, Michel Becchi, Martine Bererd, Isabelle Zanella-Cleon, Alain Francina, Martine Aubry, Philippe Lacan, Nicole Couprie, Philippe Joly
Publikováno v:
Hemoglobin. 33:196-205
We present here five new hemoglobin (Hb) variants which have been identified during routine Hb analysis before their genotypic characterization. Four of these result from a classical missense mutation: Hb Canuts [α85(F6)Asp→His (α1)], Hb Ambroise
Publikováno v:
Hemoglobin. 31:159-165
We report here two new beta(0)-thalassemic mutations. In the first case, a deletion of two nucleotides (-CC) at codon 142 was found in a French Caucasian woman. In the second case, an insertion of a single nucleotide (+T) at codon 45 was found in a T
Autor:
Michel Becchi, Nicole Couprie, Isabelle Zanella-Cléon, Nelly Burnichon, Philippe Lacan, Alain Francina, Mohammed Mowafy, Martine Aubry
Publikováno v:
Hemoglobin. 30:155-164
A new hemoglobin (Hb) variant in the heterozygous state, Hb Al-Hammadi Riyadh [codon 75 (GAC→GTC); α75(EF4)Asp→Val (α2)] corresponding to an A→T transversion on the second exon of the α2-globin gene, is described. The variant was characteriz
Autor:
Cécile Feray, Alain Francina, Céline Renoux, Isabelle Zanella-Cléon, Philippe Lacan, Caroline Garcia, Philippe Joly, Nicole Couprie
Publikováno v:
Hemoglobin
Hemoglobin, Informa Healthcare, 2014, 39 (1), pp.46-48. ⟨10.3109/03630269.2014.982760⟩
Hemoglobin, Informa Healthcare, 2014, 39 (1), pp.46-48. ⟨10.3109/03630269.2014.982760⟩
We report a new β-globin chain variant: Hb Meylan [β73(E17)Asp → Phe; HBB: c.220G>T; c.221A>T]. The new variant results from a double nucleotide mutation at the same codon. The possible molecular mechanisms are discussed.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c98b0765e349b1496a4fceb50a3799ff
https://hal.archives-ouvertes.fr/hal-02368294
https://hal.archives-ouvertes.fr/hal-02368294
Publikováno v:
Hemoglobin. 29:225-228
A new mutation of the beta-globin gene initiation codon, ATG--AAG (Met--Tyr), is reported in a man originating from the southeast of France. Typical hematological findings of beta-thalassemia (thal) trait were found. We emphasize the importance of ch
Autor:
Michel Becchi, Philippe Lacan, Nicole Couprie, Martine Aubry, Nelly Burnichon, Isabelle Zanella-Cléon, Alain Francina
Publikováno v:
Hemoglobin. 29:301-305
A new G(gamma) hemoglobin (Hb) variant, Hb F-Bron [gamma20(B2)Val-->Ala] on the first exon of the G(gamma)-globin gene is described. The variant was characterized by DNA sequencing and mass spectrometry (MS). Hematological abnormalities included hypo
Autor:
Michel Becchi, Mathieu Moreau, Alain Francina, Philippe Lacan, Nicole Couprie, Isabelle Zanella-Cléon, Martine Aubry, Jean-Jacques Louis
Publikováno v:
Hemoglobin. 29:69-75
Two new hemoglobin (Hb) variants: Hb Brem-sur-Mer [codon 9 (TC T→TA T); β9(A6)Ser→Tyr] on the first exon of the β-globin gene and Hb Passy [codon 81 (T CC→C CC); α81(F2)Ser→Pro (α2)] on the second exon of the α2-globin gene, are describe
Autor:
Philippe Lacan, Mathieu Moreau, Michel Becchi, Isabelle Zanella-Cleon, Martine Aubry, Jean-Jacques Louis, Nicole Couprie, Alain Francina
Publikováno v:
Hemoglobin. 29:69-75
Autor:
Philippe Lacan, Michel Becchi, Nicole Couprie, Martine Aubry, Martine Ffrench, Alain Francina, Isabelle Zanella-Cléon
Publikováno v:
Hemoglobin. 28:205-212
Two new β‐globin chain variants: Hb Tripoli: codon 26, GAG→GCG [β26(B8)Glu→Ala] and Hb Tizi‐Ouzou: codon 29, GGC→AGC [β29(B11)Gly→Ser] are described on the first exon of the β‐globin gene. The two variants are characterized by DNA s