التفاصيل البيبلوغرافية
العنوان:
Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes
المؤلفون:
David Beeson , John Ealing , M Brydson , Sharon Brownlow , Chris Shelley , Angela Vincent , C Hatton , Richard D. Webster , David Colquhoun , Clarke R. Slater , R Croxen , John Newsom-Davis
المصدر:
Annals of the New York Academy of Sciences . 998
سنة النشر:
2003
مصطلحات موضوعية:
Male , animal structures , Patch-Clamp Techniques , DNA Mutational Analysis , Neuromuscular Junction , In situ hybridization , Biology , Transfection , General Biochemistry, Genetics and Molecular Biology , Neuromuscular junction , Protein Structure, Secondary , Cell Line , History and Philosophy of Science , medicine , Animals , Humans , Receptors, Cholinergic , Gene , health care economics and organizations , Alleles , In Situ Hybridization , Polymorphism, Single-Stranded Conformational , Acetylcholine receptor , G alpha subunit , Genetics , Myasthenic Syndromes, Congenital , Reverse Transcriptase Polymerase Chain Reaction , General Neuroscience , Exons , Slow channel syndrome , musculoskeletal system , Protein Subunits , medicine.anatomical_structure , Immunology , Mutation , Female , Extracellular Space , Myasthenic syndromes
الوصف:
The objective was to define the molecular mechanisms underlying congenital myasthenic syndromes (CMS) by studying mutations within genes encoding the acetylcholine receptor (AChR) and related proteins at the neuromuscular junction. It was found that mutations within muscle AChRs are the most common cause of CMS. The majority are located within the epsilon-subunit gene and result in AChR deficiency.
تدمد:
0077-8923
الوصول الحر:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef64c32ae89a367266adb7aa182ee4a3Test https://pubmed.ncbi.nlm.nih.gov/14592868Test
حقوق:
OPEN
رقم الانضمام:
edsair.doi.dedup.....ef64c32ae89a367266adb7aa182ee4a3
قاعدة البيانات:
OpenAIRE
