Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis

Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis

Source :

• Human Mutation [ 1059-7794 ] ; 2012-02.

Descripteurs français

• Wicri :
  • topic : Génétique.

English descriptors

• KwdEn :
  • Agtr1, Agtr1 mutations, Angiotensin, Angiotensinogen, Autosomal, Autosomal recessive, Bacchetta, Blood pressure, Chronic kidney disease, Clin, Clinical genetics, Comp, Corvol, Damaging, Danilov, Deletion, Dysgenesis, Early postnatal death, Exon, Fetal, Fetus, Gene, Genet, Genetic defects, Genetics, Genetique, Genetique medicale, Gribouval, Gubler, Homozygous state, Hopital, Hopital robert debre, Human mutation, Lacoste, Medical genetics, Michaud, Missense, Missense mutation, Missense mutations, Missense variant, Mutation, Neonatal period, Nephrol, Pathol, Pediatr, Peptide, Peritoneal dialysis, Phenotype, Potter sequence, Proc natl acad, Proximal tubules, Receptor, Recessive, Renal, Renal disease, Renal renin expression, Renin, Renin expression, Renin production, Schreiber, Service pathologique, Signal peptide, Signal peptides, Signal sequence, Skull defects, Study gribouval, System genes, Truncating, Truncating mutations, Tubular dysgenesis, Uematsu, Unrelated families.
• Teeft :
  • Agtr1, Agtr1 mutations, Angiotensin, Angiotensinogen, Autosomal, Autosomal recessive, Bacchetta, Blood pressure, Chronic kidney disease, Clin, Clinical genetics, Comp, Corvol, Damaging, Danilov, Deletion, Dysgenesis, Early postnatal death, Exon, Fetal, Fetus, Gene, Genet, Genetic defects, Genetics, Genetique, Genetique medicale, Gribouval, Gubler, Homozygous state, Hopital, Hopital robert debre, Human mutation, Lacoste, Medical genetics, Michaud, Missense, Missense mutation, Missense mutations, Missense variant, Mutation, Neonatal period, Nephrol, Pathol, Pediatr, Peptide, Peritoneal dialysis, Phenotype, Potter sequence, Proc natl acad, Proximal tubules, Receptor, Recessive, Renal, Renal disease, Renal renin expression, Renin, Renin expression, Renin production, Schreiber, Service pathologique, Signal peptide, Signal peptides, Signal sequence, Skull defects, Study gribouval, System genes, Truncating, Truncating mutations, Tubular dysgenesis, Uematsu, Unrelated families.

Abstract

• https://api.istex.fr/document/ED8163467FC76F87E43F2DECF832E8A096AACA2F/fulltext/pdf

Affiliations:

• Allemagne, Australie, Canada, Danemark, Espagne, Finlande, France, Israël, Italie, Norvège, Portugal, Royaume-Uni, Suisse, États-Unis
• Alsace (région administrative), Auvergne-Rhône-Alpes, Bourgogne, Bourgogne-Franche-Comté, Californie, Canton de Zurich, Centre-Val de Loire, Grand Est, Latium, Midi-Pyrénées, Nouveau-Mexique, Occitanie (région administrative), Pays de la Loire, Provence-Alpes-Côte d'Azur, Québec, Rhône-Alpes, Région Centre, Texas, Île-de-France
• Angers, Dijon, Marseille, Montréal, Nantes, Paris, Rome, Saint-Étienne, Strasbourg, Toulouse, Tours, Zurich
• Université McGill, Université Paris-Descartes, Université de la Méditerranée

Links toward previous steps (curation, corpus...)

• to stream Istex, to step Corpus: 002C86
• to stream Istex, to step Curation: 002C86
• to stream Istex, to step Checkpoint: 000522
• to stream Main, to step Merge: 005864
• to stream Main, to step Curation: 005597

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