About: A mutation in the human ryanodine receptor gene associated with central core disease

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description	article (en) ലേഖനം (ml) wetenschappelijk artikel (nl) наукова стаття, опублікована у вересні 1993 (uk) article scientifique publié en 1993 (fr) im September 1993 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q55670932-9EDB900C-BE7F-42A4-9134-CDD46806DAB4
publication date	1993-09-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q55670932-17290FDF-8188-487B-9A79-B80F90C58E3A
language of work or name	English
exact match	wds:Q55670932-7930AB9C-4384-4167-845B-F2A8869D1A43
exact match	https://scigraph.springernature.com/pub.10.1038/ng0993-46
cites work	wds:Q55670932-09423B6E-E851-4EA1-8C69-6AFBE349137B wds:Q55670932-1730EB56-44AF-40C9-B10B-4A47EC32D071 wds:Q55670932-2389E250-76BA-4FBE-871B-82BDF784BECD wds:Q55670932-25B6F784-F6F2-405D-B73B-AB04F29B5D08 wds:Q55670932-2BFEF4E8-C955-46FA-A015-55F7C3A79F80 wds:Q55670932-2C67C9B8-E439-42A0-AE1D-ACB567DFED08 wds:Q55670932-3691085B-08FA-4A25-90F6-4531D7D0B0A7 wds:Q55670932-36BDC881-FCFA-44A7-B9EA-1FF60D7E2AED wds:Q55670932-40CDB26D-9585-4F0D-A17D-2A4C2F61D23F wds:Q55670932-4186A3AF-4EEB-4A04-809A-CB23679DA3FE wds:Q55670932-41B1CB5A-E90C-451B-855B-B732BEF3A91D wds:Q55670932-4C3043CE-875E-49CE-A600-2EB4CEC3B709 wds:Q55670932-4D639D1C-B437-4BA8-82D1-FBF5676BED74 wds:Q55670932-54EE10AD-A602-4E83-8207-B677FAFC72CA wds:Q55670932-558EFE9F-F0AD-4C74-BB23-567015EAC55A wds:Q55670932-7954C71C-BFC9-45C6-AFB1-784A898FB437 wds:Q55670932-8FD3D484-EC5B-4155-A790-325E04E69B54 wds:Q55670932-90B92DCD-49D3-436F-A2C1-1D857480002F wds:Q55670932-95DD4908-C1F5-44BE-9A06-E2F8DE7A9806 wds:Q55670932-A3C2DA98-08D0-42B1-8654-ADC0620F96FD wds:Q55670932-B33C63E3-B2A5-4107-B3F0-C0084810C691 wds:Q55670932-BEC1FECE-40F9-4E62-AFAB-7B102990E370 wds:Q55670932-CFB68585-6221-45A4-9C6F-B43437775772 wds:Q55670932-D6A05647-90AF-478A-A910-B516092B0308 wds:Q55670932-DE33DF9A-2DE5-4B06-9CA3-EF9EEE8FF87B wds:Q55670932-ECD61BB1-AB30-4372-94D4-9FAB14FA638C
cites work	A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia Evidence for genetic heterogeneity in malignant hyperthermia susceptibility Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2. Mitochondrial calcium overload: A general mechanism for cell-necrosis in muscle diseases A new congenital non-progressive myopathy Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia. A simple salting out procedure for extracting DNA from human nucleated cells Intracellular calcium homeostasis Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptor. Identification of a Mutation in Porcine Ryanodine Receptor Associated with Malignant Hyperthermia Malignant hyperthermia Central core disease: clinical and pathological evidence of progression within a family Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia. Opening the gates on ion channel diseases A cysteine-for-arginine substitution (R614C) in the human skeletal muscle calcium release channel cosegregates with malignant hyperthermia Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19. Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia Cosegregation of porcine malignant hyperthermia and a probable causal mutation in the skeletal muscle ryanodine receptor gene in backcross families Assignment of the gene for central core disease to chromosome 19 Central core disease and malignant hyperthermia syndrome Central-core disease and malignant hyperpyrexia Malignant Hyperthermia and Central Core Disease in a Child With Congenital Dislocating Hips Central core disease of muscle with focal wasting Malignant hyperthermia: relationship to other diseases Electrophoresis of muscle proteins is not a method for diagnosis of malignant hyperthermia susceptibility.
author name string	wds:Q55670932-0CF86AEE-587E-4FFC-AAA0-32ECCC490CE3 wds:Q55670932-54E99848-3886-4369-81BE-F05F2941C296 wds:Q55670932-786A5936-4C6A-42F2-845E-6F3A1504DEF8 wds:Q55670932-948CDA3D-C921-44A3-8DB9-8FD3824086F2 wds:Q55670932-AF65A95C-28AF-4226-8922-E59365256C1C wds:Q55670932-C48445CF-7521-46FB-BB79-D051FCC9569D wds:Q55670932-C4D7E612-6493-4A5E-8B85-3A2530997EE1 wds:Q55670932-C9E357E6-9268-4FB7-BAD9-328B42459125 wds:Q55670932-E43D4711-6A6E-45C8-9120-A76237E2F7C7
author name string	Y Zhang D H MacLennan V K Khanna K Schappert H S Chen M S Phillips B A Britt A K Browell S De Leon
rdfs:label	A mutation in the human ryanodine receptor gene associated with central core disease (en) A mutation in the human ryanodine receptor gene associated with central core disease (nl)
skos:prefLabel	A mutation in the human ryanodine receptor gene associated with central core disease (en) A mutation in the human ryanodine receptor gene associated with central core disease (nl)
name	A mutation in the human ryanodine receptor gene associated with central core disease (en) A mutation in the human ryanodine receptor gene associated with central core disease (nl)
title	wds:Q55670932-97647164-ADAD-47A5-A3AC-EEB7B3D1D89E
title	A mutation in the human ryanodine receptor gene associated with central core disease (en)
page(s)	wds:Q55670932-9EAB14AE-FF62-40F3-8BAC-1DD43B8986E2
page(s)	46-50
instance of	wds:Q55670932-C17C7B0F-2DA6-41EE-BA6D-45AA109B8DE9
instance of	scholarly article
PubMed ID	wds:Q55670932-E4C0CBAC-FC3D-42D2-93E8-239D9AEDEB0C
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/8220422
PubMed ID	8220422
published in	wds:Q55670932-BD895311-44CF-4EF1-9287-03A4BD27E360
published in	Nature Genetics

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