Intragenic mutations in SMN1 may contribute more...

Brain and Development 2014 / 11 Vol. 36; Iss. 10

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

Yamamoto, Tomoto, Sato, Hideyuki, Lai, Poh San, Nurputra, Dian Kesumapramudya, Harahap, Nur Imma Fatimah, Morikawa, Satoru, Nishimura, Noriyuki, Kurashige, Takashi, Ohshita, Tomohiko, Nakajima, Hideki
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Volume:
36
Language:
english
Journal:
Brain and Development
DOI:
10.1016/j.braindev.2013.11.009
Date:
November, 2014
File:
PDF, 362 KB
english, 2014
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