Academic Journal

A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness

التفاصيل البيبلوغرافية
العنوان: A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness
المؤلفون: Segarra-Casas, Alba, Collet, Roger, Gonzalez-Quereda, Lidia, Vesperinas, Ana, Caballero-Ávila, Marta, Carbayo, Alvaro, Díaz-Manera, Jordi, Rodriguez, María José, Gallardo, Eduard, Gallano, Pia, Olivé, Montse
المصدر: Neuromuscular Disorders ; volume 33, issue 4, page 319-323 ; ISSN 0960-8966
بيانات النشر: Elsevier BV
سنة النشر: 2023
المجموعة: ScienceDirect (Elsevier - Open Access Articles via Crossref)
نوع الوثيقة: article in journal/newspaper
اللغة: English
DOI: 10.1016/j.nmd.2023.02.006
الاتاحة: http://dx.doi.org/10.1016/j.nmd.2023.02.006
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Rights: https://www.elsevier.com/tdm/userlicense/1.0/ ; https://www.elsevier.com/legal/tdmrep-license ; https://doi.org/10.15223/policy-017 ; https://doi.org/10.15223/policy-037 ; https://doi.org/10.15223/policy-012 ; https://doi.org/10.15223/policy-029 ; https://doi.org/10.15223/policy-004
رقم الانضمام: edsbas.5E1F8A6D
قاعدة البيانات: BASE
الوصف
DOI:10.1016/j.nmd.2023.02.006