Kết quả tìm kiếm - Pascal Trouvé
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A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family Bằng Paul Guéguen, Karen Rouault, Jian‐Min Chen, Odile Raguénès, Yann Fichou, Elisabeth Hardy, Eric Gobin, Brigitte Pan‐Petesch, Mathieu Kerbiriou, Pascal Trouvé, Pascale Marcorelles, Jean‐François Abgrall, Cédric Le Maréchal, Claude Férec
Được phát hành 2013Artigo -
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Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis Bằng Hugo Lemoine, Loann Raud, François Foulquier, John A. Sayer, B. Lambert, Eric Olinger, Siriane Lefèvre, Bertrand Knebelmann, Peter C. Harris, Pascal Trouvé, Aurore Després, Gabrielle Duneau, Marie Matignon, Anaïs Poyet, Noémie Jourde‐Chiche, Dominique Guerrot, Sandrine Lemoine, Guillaume Séret, Miguel Barroso‐Gil, Coralie Bingham, Rodney D. Gilbert, Yannick Le Meur, Marie‐Pierre Audrézet, Émilie Cornec-Le Gall
Được phát hành 2022Artigo
Công cụ tìm kiếm:
Các môn học liên quan
Biology
Gene
Genetics
Mutation
Cystic fibrosis
Exome sequencing
Missense mutation
Molecular biology
ATF6
Autosomal dominant polycystic kidney disease
Biochemistry
Cell biology
Chemistry
Chloride channel
Cystic fibrosis transmembrane conductance regulator
Cystic kidney disease
Endoplasmic reticulum
Enzyme
Frameshift mutation
Haploinsufficiency
Kidney
Locus (genetics)
Mutant
PKD1
Peptide sequence
Phenotype
Polycystic kidney disease
PstI
RNA
RNA splicing