Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients

✍ Scribed by Yamamoto, Tomoto; Sato, Hideyuki; Lai, Poh San; Nurputra, Dian Kesumapramudya; Harahap, Nur Imma Fatimah; Morikawa, Satoru; Nishimura, Noriyuki; Kurashige, Takashi; Ohshita, Tomohiko; Nakajima, Hideki; Yamada, Hiroyuki; Nishida, Yoshinobu; Toda, Soichiro; Takanashi, Jun-ichi; Takeuchi, Atsuko; Tohyama, Yumi; Kubo, Yuji; Saito, Kayoko; Takeshima, Yasuhiro; Matsuo, Masafumi; Nishio, Hisahide

• Book ID: 121423465
• Publisher: Elsevier Science
• Year: 2014
• Tongue: English
• Weight: 362 KB
• Volume: 36
• Category: Article
• ISSN: 0387-7604
• DOI: 10.1016/j.braindev.2013.11.009