Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients-Reference-Cited by-同舟云学术

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

Published:2014-11 Issue:10 Volume:36 Page:914-920
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

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

Funder

Research Committee of Spinal Muscular Atrophy (SMA)

Ministry of Education, Science, Sports and Culture of Japan

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference38 articles.

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4. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3;Brzustowicz;Nature,1990

5. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy;Gilliam;Nature,1990

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