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Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients

✍ Scribed by Hanna T. Gazda; Mee Rie Sheen; Adrianna Vlachos; Valerie Choesmel; Marie-Françoise O'Donohue; Hal Schneider; Natasha Darras; Catherine Hasman; Colin A. Sieff; Peter E. Newburger; Sarah E. Ball; Edyta Niewiadomska; Michal Matysiak; Jan M. Zaucha; Bertil Glader; Charlotte Niemeyer; Joerg J. Meerpohl; Eva Atsidaftos; Jeffrey M. Lipton; Pierre-Emmanuel Gleizes; Alan H. Beggs

Book ID: 113422568
Publisher: American Society of Human Genetics
Year: 2008
Tongue: English
Weight: 505 KB
Volume: 83
Category: Article
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2008.11.004

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Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia

✍ Radek Cmejla; Jana Cmejlova; Helena Handrkova; Jiri Petrak; Kvetoslava Petrtylov 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 313 KB

Diamond-Blackfan anemia (DBA) is a congenital red blood cell aplasia that is usually diagnosed during early infancy. Apart from defects in red blood cell maturation, the disorder is also associated with various physical anomalies in 40% of patients. Mutations in the ribosomal protein (RP) S19 are fo