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Neuromuscular Disorders, ISSN 0960-8966, 2016, Volume 26, Issue 4, pp. 277 - 282
Highlights • Whole exome sequencing (WES) was performed for 6 unrelated Iranian probands diagnosed with a kind of muscular disorder. • Mutations in CAPN3 gene... 
Neurology | Calpain3 | CAPN3 | Limb-girdle | Iran | Whole exome sequencing | Muscular dystrophy | CALPAIN-3 | MUSCLE | NEUROSCIENCES | CLINICAL NEUROLOGY | FREQUENCY | MUTATIONS | LGMD2A | Sequence Deletion | Exons | Humans | Male | Calpain - genetics | Muscle Proteins - genetics | Young Adult | DNA Mutational Analysis | Muscular Dystrophies, Limb-Girdle - genetics | Pedigree | Base Sequence | Adolescent | Adult | Family | Female | Genetic research | Genes | Index Medicus
Journal Article
Archives of Iranian Medicine, ISSN 1029-2977, 04/2016, Volume 19, Issue 4, pp. 236 - 240
Background: Fanconi anemia (FA) is a rare genetic syndrome characterized by developmental defects, bone marrow failure, and a high cancer risk. FA is usually... 
FANCA | Fanconi anemia | Gene panel sequencing | Iran | FANCG | POPULATION | MEDICINE, GENERAL & INTERNAL | REPAIR | VARIANTS | gene panel sequencing | Fanconi Anemia | IDENTIFICATION
Journal Article
Archives of Iranian Medicine, ISSN 1029-2977, 09/2017, Volume 20, Issue 9, pp. 617 - 620
The calcium channel, voltage-dependent, L-type, alpha 1 S subunit (CACNA1S) gene encodes a skeletal Ca2+ channel which is involved in calcium-dependent... 
Channelopathies | Next-generation sequencing | Normokalemic | CACNA1S | Periodic paralysis | MEDICINE, GENERAL & INTERNAL | periodic paralysis | next-generation sequencing | DNA | channelopathies | HYPOKALEMIC PERIODIC PARALYSIS | normokalemic | Metabolism | Mutation
Journal Article
Archives of Iranian Medicine, ISSN 1029-2977, 01/2015, Volume 18, Issue 1, pp. 60 - 64
Mutations in plectin, a widely expressed giant cytolinker protein can lead to different diseases Mostly with signs Of muscular dystrophy (MD) and skin... 
Myasthenic symptoms | Iran | Limb-girdle muscular dystrophy | Plectinopathy | MYASTHENIC SYNDROME | MEDICINE, GENERAL & INTERNAL | EPIDERMOLYSIS-BULLOSA SIMPLEX | plectinopathy | MUTATIONS | myasthenic symptoms | DEFICIENCY | limb-girdle muscular dystrophy
Journal Article
Archives of Iranian medicine, 04/2016, Volume 19, Issue 4, p. 236
Fanconi anemia (FA) is a rare genetic syndrome characterized by developmental defects, bone marrow failure, and a high cancer risk. FA is usually inherited as... 
Genetic Testing | Humans | Fanconi Anemia Complementation Group Proteins - genetics | Child, Preschool | Male | Fanconi Anemia - diagnosis | Iran | DNA Mutational Analysis | Adult | Female | Fanconi Anemia - genetics | Mutation | Chromosome Breakage
Journal Article
Archives of Iranian medicine, 09/2017, Volume 20, Issue 9, p. 617
The calcium channel, voltage-dependent, L-type, alpha 1S subunit (CACNA1S) gene encodes a skeletal Ca2+ channel which is involved in calcium-dependent... 
Young Adult | Creatine Kinase - blood | DNA Mutational Analysis | Humans | Male | Muscular Diseases - genetics | Mutation | Calcium Channels - genetics | Whole Exome Sequencing
Journal Article
Archives of Iranian medicine, 01/2015, Volume 18, Issue 1, p. 60
Mutations in plectin, a widely expressed giant cytolinker protein can lead to different diseases mostly with signs of muscular dystrophy (MD) and skin... 
Plectin - genetics | Blepharoptosis - genetics | Muscular Dystrophies, Limb-Girdle - genetics | Pedigree | Humans | Adult | Female | Ophthalmoplegia - genetics | Deglutition Disorders - genetics | Syndrome | Siblings
Journal Article
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