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Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism

✍ Scribed by Lucie Pujo; Jérôme Fagart; Françoise Gary; Dimitris T. Papadimitriou; Aurélie Claës; Xavier Jeunemaître; Maria-Christina Zennaro


Book ID
102260288
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
307 KB
Volume
28
Category
Article
ISSN
1059-7794

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✦ Synopsis


Communicated by


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✍ Nicole Monnier; Isabelle Marty; Julien Faure; Claudia Castiglioni; Claude Desnue 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 325 KB

## Communicated by Claude Fe ´rec Mutations of the ryanodine receptor cause dominant and recessive forms of congenital myopathies with cores. Quantitative defects of RYR1 have been reported in families presenting with recessive forms of the disease and epigenic regulation has been recently proposed