✦ LIBER ✦

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

✍ Scribed by Olivier Gribouval; Vincent Morinière; Audrey Pawtowski; Christelle Arrondel; Satu-Leena Sallinen; Carola Saloranta; Carol Clericuzio; Géraldine Viot; Julia Tantau; Sophie Blesson; Sylvie Cloarec; Marie Christine Machet; David Chitayat; Christelle Thauvin; Nicole Laurent; Julian R. Sampson; Jonathan A Bernstein; Alix Clemenson; Fabienne Prieur; Laurent Daniel; Annie Levy-Mozziconacci; Katherine Lachlan; Jean Luc Alessandri; François Cartault; Jean Pierre Rivière; Nicole Picard; Clarisse Baumann; Anne Lise Delezoide; Maria Belar Ortega; Nicolas Chassaing; Philippe Labrune; Sui Yu; Helen Firth; Diana Wellesley; Martin Bitzan; Ahmed Alfares; Nancy Braverman; Lotte Krogh; John Tolmie; Harald Gaspar; Bérénice Doray; Silvia Majore; Dominique Bonneau; Stéphane Triau; Chantal Loirat; Albert David; Deborah Bartholdi; Amir Peleg; Damien Brackman; Rosario Stone; Ralph DeBerardinis; Pierre Corvol; Annie Michaud; Corinne Antignac; Marie Claire Gubler

Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 309 KB
Volume: 33
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.21661

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

An update of the mutation spectrum of th

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)

✍ Brunhilde Wirth 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 257 KB 👁 2 views

Spinal muscular atrophy (SMA) is characterized by degeneration of motor neurons in the spinal cord, causing progressive weakness of the limbs and trunk, followed by muscle atrophy. SMA is one of the most frequent autosomal recessive diseases, with a carrier frequency of 1 in 50 and the most common g