Maroteaux-lamy syndrome: five novel mutations and their structural localization.
about
Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage DiseasesMetabolic cardiomyopathies.Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism.Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase.Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) GeneMucopolysaccharidosis VI in cats - clarification regarding genetic testingDiagnostic and treatment strategies in mucopolysaccharidosis VI.Mutations in ARSB in MPS VI patients in India.Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy.Defective ARSB does not hydrolyse C4S/C6S chainsMucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.Defective ARSB does not hydrolyse DS
P2860
Q28547356-3E396288-C6EB-4BD8-AE12-0C42EDF58477Q34216280-A1E32505-53A7-403B-B64E-A0E45F6A5780Q34327046-B186167B-CE4F-4491-AEDF-0DB8BD17C942Q34415472-FD0E6C10-8E64-4B5E-99EE-EC6D67E8DD3BQ34422329-52B6123E-4D00-4874-BB5E-9E10A49843C0Q36066425-D31F06BE-5793-47E9-A0D6-CBCCEF660241Q36253221-B1174B4F-AFA4-4151-A16F-A3D3484F2A4DQ36571593-9D00970A-23E3-473B-A212-C8A8945DDF02Q40587905-313AF32A-18B0-458C-BC2B-084222F71096Q50289077-E6B1A78A-061E-46C0-A033-96066D9ED9ADQ54620854-FF62DF5E-D878-4780-B3B5-57C6B49029EDQ55214592-2AC52388-7211-49EF-B40F-BF06B3D5AD2B
P2860
Maroteaux-lamy syndrome: five novel mutations and their structural localization.
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
1999年學術文章
@zh-hant
name
Maroteaux-lamy syndrome: five novel mutations and their structural localization.
@en
Maroteaux-lamy syndrome: five novel mutations and their structural localization.
@nl
type
label
Maroteaux-lamy syndrome: five novel mutations and their structural localization.
@en
Maroteaux-lamy syndrome: five novel mutations and their structural localization.
@nl
prefLabel
Maroteaux-lamy syndrome: five novel mutations and their structural localization.
@en
Maroteaux-lamy syndrome: five novel mutations and their structural localization.
@nl
P2093
P1476
Maroteaux-lamy syndrome: five novel mutations and their structural localization.
@en
P2093
P304
P356
10.1016/S0925-4439(98)00099-4
P577
1999-02-01T00:00:00Z