The second point mutation in PREPL: a case report and literature review.

Silva, Sebastian; Miyake, Noriko; Tapia, Carolina; Matsumoto, Naomichi

Silva, Sebastian; Miyake, Noriko; Tapia, Carolina; Matsumoto, Naomichi.

Affiliation

Silva S; Servicio de Pediatría, Hospital de Puerto Montt, 5507798, Puerto Montt, Chile.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan. nmiyake@yokohama-cu.ac.jp.
Tapia C; Instituto de Rehabilitación Teletón, 5502446, Puerto Montt, Chile.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan. naomat@yokohama-cu.ac.jp.

J Hum Genet ; 63(5): 677-681, 2018 May.

Article in En | MEDLINE | ID: mdl-29483676

Subject(s)

Myasthenic Syndromes, Congenital/diagnosis; Myasthenic Syndromes, Congenital/genetics; Point Mutation; Serine Endopeptidases/genetics; Amino Acid Substitution; Biomarkers; Child, Preschool; Electromyography; Exons; Facies; Female; Genetic Association Studies; Genotype; Humans; Magnetic Resonance Imaging; Phenotype; Prolyl Oligopeptidases

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Serine Endopeptidases / Point Mutation / Myasthenic Syndromes, Congenital Type of study: Prognostic_studies Limits: Child, preschool / Female / Humans Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2018 Type: Article Affiliation country: Chile

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