N.P.3 02 Wide clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2 gene

التفاصيل البيبلوغرافية
العنوان: N.P.3 02 Wide clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2 gene
المؤلفون: Rebecca Gooding, Yesim Parman, Luba Kalaydjieva, Jaume Colomer, Andrés Nascimento, Dora Angelicheva, Rosalind H.M. King, J. Conill
المصدر: Neuromuscular Disorders. 16:664-665
بيانات النشر: Elsevier BV, 2006.
سنة النشر: 2006
مصطلحات موضوعية: Genetics, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Medicine, Sh3tc2 gene, In patient, Neurology (clinical), Disease, business, Genetics (clinical)
تدمد: 0960-8966
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9b4816c329407604d95172d66fcaf985Test
https://doi.org/10.1016/j.nmd.2006.05.078Test
حقوق: CLOSED
رقم الانضمام: edsair.doi...........9b4816c329407604d95172d66fcaf985
قاعدة البيانات: OpenAIRE