Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients

✍ Scribed by Luigi Bisceglia; Lucia Fischetti; Patrizia De Bonis; Orazio Palumbo; Bartolomeo Augello; Pietro Stanziale; Massimo Carella; Leopoldo Zelante

• Book ID: 116988708
• Publisher: Elsevier Science
• Year: 2010
• Tongue: English
• Weight: 1014 KB
• Volume: 99
• Category: Article
• ISSN: 1096-7192
• DOI: 10.1016/j.ymgme.2009.09.001