Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: Identification of 10 new mutations. Absence of genotype–phenotype correlation

2007 ◽  
Vol 17 (3) ◽  
pp. 235-241 ◽  
Author(s):  
Robert Aquaron ◽  
Jean-louis Bergé-Lefranc ◽  
Jean-Francois Pellissier ◽  
Marie-France Montfort ◽  
Michèle Mayan ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Phenotype Correlation ◽  
Southern France ◽  
Mcardle Disease ◽  
Genotype Phenotype Correlation ◽  
New Mutations

Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation

2010 ◽  
Vol 9 (4) ◽  
pp. 635-642 ◽  
Author(s):  
Israel Gomy ◽  
Greice Andreotti Molfetta ◽  
Ester de Andrade Barreto ◽  
Cristiane Ayres Ferreira ◽  
Dalila Luciola Zanette ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Phenotype Correlation ◽  
Von Hippel Lindau ◽  
Genotype Phenotype Correlation ◽  
Von Hippel Lindau Disease

Clinical and molecular characterization of individuals with 18p deletion: A genotype–phenotype correlation

2006 ◽  
Vol 140A (11) ◽  
pp. 1164-1171 ◽  
Author(s):  
Ulrika Wester ◽  
Marie-Louise Bondeson ◽  
Christina Edeby ◽  
Göran Annerén
Keyword(s):  
Molecular Characterization ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

First evidence and molecular characterization of Babesia vogeli in naturally infected dogs and Rhipicephalus sanguineus ticks in southern France

2012 ◽  
Vol 187 (3-4) ◽  
pp. 399-407 ◽  
Author(s):  
M. René ◽  
J. Chêne ◽  
J.P. Beaufils ◽  
C. Valiente Moro ◽  
G. Bourdoiseau ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Rhipicephalus Sanguineus ◽  
Southern France ◽  
Babesia Vogeli

P.040 Molecular characterization of HBV genotypes newly diagnosed in 2004 in southern France

2006 ◽  
Vol 36 ◽  
pp. S73 ◽  
Author(s):  
C. Tamalet ◽  
P. Colson ◽  
M. Henry ◽  
C. Tourres ◽  
P. Borentain ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Newly Diagnosed ◽  
Southern France ◽  
Hbv Genotypes

scholarly journals PB1968 TWO NEW MUTATIONS AND MOLECULAR CHARACTERIZATION OF G6PD GENE AMONG THAI CHILDREN WITH G6PD DEFICIENCY

HemaSphere ◽  
2019 ◽  
Vol 3 (S1) ◽  
pp. 894 ◽  
Author(s):  
C. Traivaree ◽  
B. Boonyawat ◽  
A. Photi-a ◽  
C. Monsereenusorn ◽  
T. Phetthong
Keyword(s):  
Molecular Characterization ◽  
G6pd Deficiency ◽  
G6pd Gene ◽  
New Mutations

M.P.4.03 Transcript analysis for molecular characterization of “manifesting heterozygotes” patients with McArdle disease

2007 ◽  
Vol 17 (9-10) ◽  
pp. 860
Author(s):  
I. Garcia-Consuegra ◽  
J. Rubio ◽  
G. Nogales ◽  
A. Delmiro ◽  
A. Blazquez ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Transcript Analysis ◽  
Mcardle Disease
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