NovelTIGR sequence alteration Val53Ala
Copyright policy )NovelTIGR sequence alteration Val53Ala
Authors:C. P. Pang*, Y. F. Leung, John K. H. Chua, Larry Baum, Dorothy S. P. Fan, and Dennis S. C. LamAffiliations:Department of Ophthalmology & Visual Sciences, the Chinese University of Hong Kong, HongKongCorresponding Author Address and E-mail:*Correspondence:Prof. C.P. PangDepartment of Ophthalmology and Visual SciencesThe Chinese University of Hong KongHong Kong Eye Hospital, 3/F147K Argyle StreetKowloon, Hong KongTelephone: [852] 27623129 Fax: [852] 2 7159490E-mail: cppang@cuhk.edu.hkTitle :Novel TIGR sequence alteration Val53AlaKeywords:TIGR, myocilin, mutation, polymorphism, angle closure glaucomaSpecies: Homo sapiensChange is: Don’t knowGene/LocusName: TIGRSymbol: MYOCGenbank accession number:NM_000261OMIM accession number: MIM# 601652Locus specific database: UnknownChromosomal location: 1q24.3-q25.2Inheritance: UnknownMutation / polymorphism namenote: Please follow nomenclature guide; http://journals.wiley.com/humanmutation/nomenclature.htmlNucleotide change–Systematic name: c158T>CAmino acid change–Trivial name: V53AMutation / polymorphism type: MissensePolymorphism frequency: <1%?Detection method: CSGE
- Chinese University of Hong Kong China (People's Republic of)
Alanine, Polymorphism, Genetic, Molecular Sequence Data, Mutation, Missense, Valine, Cytoskeletal Proteins, Amino Acid Substitution, Chromosomes, Human, Pair 1, Hong Kong, Humans, Eye Proteins, Glaucoma, Angle-Closure, Aged, Glycoproteins
Alanine, Polymorphism, Genetic, Molecular Sequence Data, Mutation, Missense, Valine, Cytoskeletal Proteins, Amino Acid Substitution, Chromosomes, Human, Pair 1, Hong Kong, Humans, Eye Proteins, Glaucoma, Angle-Closure, Aged, Glycoproteins
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