ملخص
Autosomal recessive early onset forms of motor neuron disorders including infantile-onset ascending hereditary spastic paraplegia (OMIM #. 607225) are due to homozygous mutations in the ALS2 gene. Here, we report on a novel splice-site mutation of the ALS2 (c.2351+2C>A) in four children of a consanguineous union with infantile-onset ascending hereditary spastic paraplegia.
اللغة الأصلية | English |
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الصفحات (من إلى) | 275-278 |
عدد الصفحات | 4 |
دورية | European Journal of Medical Genetics |
مستوى الصوت | 57 |
رقم الإصدار | 6 |
المعرِّفات الرقمية للأشياء | |
حالة النشر | Published - مايو 2014 |
منشور خارجيًا | نعم |
ASJC Scopus subject areas
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