Search Results - "Chevalier‐Porst, Françoise"

Maternal isodisomy of the telomeric end of chromosome 2 is responsible for a case of primary hyperoxaluria type 1 by Chevalier‐Porst, Françoise, Rolland, Marie‐Odile, Cochat, Pierre, Bozon, Dominique

“…Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder of glyoxylate metabolism, in which excessive oxalates are formed by the liver and…”
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Mutation analysis in 11 French patients with Fabry disease by Guffon, Nathalie, Froissart, Roseline, Chevalier-Porst, Françoise, Maire, Irène

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Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations? by Claustres, Mireille, Altiéri, Jean-Pierre, Guittard, Caroline, Templin, Carine, Chevalier-Porst, Françoise, Des Georges, Marie

“…To contribute further to the classification of three CFTR amino acid changes (p.I148T, p.R74W and p.D1270N) either as CF or CBAVD-causing mutations or as…”
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40 kilobase deletion (CF 40 kb del 4-10) removes exons 4 to 10 of the cystic fibrosis transmembrane conductance regulator gene by Chevalier-Porst, Françoise, Bonardot, Anne-Marie, Chazalette, Jean-Pierre, Mathieu, Monique, Bozon, Dominique

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Maternal isodisomy of the telomeric end of chromosome 2 is responsible for a case of primary hyperoxaluria type 1 by Chevalier-Porst, Françoise, Rolland, Marie-Odile, Cochat, Pierre, Bozon, Dominique

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A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype by HERGERSBERG, M, BALAKRISHNAN, J, THONNEY, F, MOSER, H, MALIK, N, BETTECKEN, T, CHEVALIER-PORST, F, BRÄGGER, C, BURGER, R, EINSCHENK, I, LIECHTI-GALLATI, S, MORRIS, M, SCHORDERET, D

“…We have analysed 1173 cystic fibrosis (CF) chromosomes from Switzerland for eight mutations in the CF transmembrane conductance regulator (CFTR) gene. This…”
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