Gender Effects on the Clinical Phenotype in Japanese Patients with Spinal Muscular Atrophy

BACKGROUND: Spinal muscular atrophy (SMA) is a neuromuscular disease caused by a mutation in SMN1. SMA is classified into three subtypes (types 1, 2, 3) based on achieved motor milestones. Although NAIP and SMN2 are widely accepted as SMA-modifying factors, gender-related modifying factors or gender...

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Gepubliceerd in:Kobe J Med Sci
Hoofdauteurs: ROCHMAH, MAWADDAH AR, SHIMA, AI, HARAHAP, NUR IMMA FATIMAH, NIBA, EMMA TABE EKO, MORISADA, NAOYA, YANAGISAWA, SHINICHIRO, SAITO, TOSHIO, KANEKO, KAORI, SAITO, KAYOKO, MORIOKA, ICHIRO, IIJIMA, KAZUMOTO, LAI, POH SAN, BOUIKE, YOSHIHIRO, NISHIO, HISAHIDE, SHINOHARA, MASAKAZU
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Kobe University School Of Medicine 2017
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5826018/
https://ncbi.nlm.nih.gov/pubmed/29434173
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