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المؤلفون: Dong Wang, Min Gao, Kaihui Zhang, Ruifeng Jin, Yuqiang Lv, Yong Liu, Jian Ma, Ya Wan, Zhongtao Gai, Yi Liu
المصدر: Frontiers in Pharmacology
Frontiers in Pharmacology, Vol 10 (2019)مصطلحات موضوعية: 0301 basic medicine, Proband, musculoskeletal diseases, muscular dystrophy, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Genetic counseling, Compound heterozygosity, merosin-deficient congenital muscular dystrophy type 1A, 03 medical and health sciences, 0302 clinical medicine, Molecular genetics, medicine, Pharmacology (medical), Multiplex ligation-dependent probe amplification, Muscular dystrophy, LAMA2, multiplex ligation-dependent probe amplification, Original Research, Genetics, Pharmacology, business.industry, Point mutation, lcsh:RM1-950, medicine.disease, 030104 developmental biology, lcsh:Therapeutics. Pharmacology, 030220 oncology & carcinogenesis, Medical genetics, next-generation sequencing, business, dystrophin (DMD)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5131dd8815fe97081840bb0cc0ec5a0aTest
https://pubmed.ncbi.nlm.nih.gov/31404137Test -
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المؤلفون: O. A. Klochkova, A. L. Kurenkov, A. M. Mamed'yarov
المصدر: Pediatričeskaâ Farmakologiâ, Vol 11, Iss 4, Pp 81-87 (2014)
مصطلحات موضوعية: merosin-deficient muscular dystrophy, electromyography, medicine.medical_specialty, Pathology, Pediatrics, Symptomatic treatment, floppy infant syndrome, neuromuscular diseases, Prenatal diagnosis, RM1-950, Compound heterozygosity, Epidemiology, merosin, medicine, magnetic resonance imaging, creatine phosphokinase, congenital muscular dystrophy, Muscle biopsy, medicine.diagnostic_test, business.industry, medicine.disease, lama2, cmd1a, myopathies, Congenital muscular dystrophy, Therapeutics. Pharmacology, muscle biopsy, Differential diagnosis, business, Myodystrophies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ce68d916c755345ec831785728d86ffTest
https://doi.org/10.15690/pf.v11i4.1069Test