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Western blotting with diaminobenzidine detection for the diagnosis of congenital disorders of glycosylation
by
Artuch, Rafael
,
Ferrer, Imma
,
Pineda, Julia
,
Moreno, Justo
,
Busquets, Christiane
,
Briones, Paz
,
Vilaseca, Maria Antonia
Published in
Journal of neuroscience methods
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Evidence of a single origin for the most frequent mutation (R402W) causing glutaryl-CoA dehydrogenase deficiency: Identification of 3 novel polymorphisms and haplotype definition
by
Busquets, Christiane
,
Coll, M. Josep
,
Ribes, Antonia
Published in
Human mutation
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Mutation Analysis of the GCDH Gene in Italian and Portuguese Patients with Glutaric Aciduria Type I
by
Busquets, Christiane
,
Soriano, Mercedes
,
de Almeida, Isabel Tavares
,
Garavaglia, Barbara
,
Rimoldi, Marco
,
Rivera, Isabel
,
Uziel, Graziella
,
Cabral, Aguinaldo
,
Coll, M.Josep
,
Ribes, Antonia
Published in
Molecular genetics and metabolism
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Severe Corneal Complications Associated With Corneal Lubricant Used During Surgery
by
Lee, Andrew C.
,
Opremcak, E. Mitchel
,
Hunt, Christiane
,
Astruc, Juan A.
,
Toussaint, Brian
,
Miller, David G.
,
Busquets, Miguel A.
,
Ferrone, Philip J.
Published in
Journal of vitreoretinal diseases (Print)
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Peer Reviewed
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Journal Title
Human Mutation
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Journal Of Neuroscience Methods
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Journal Of Vitreoretinal Diseases
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Molecular Genetics And Metabolism
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1
Subjects
Humans
3 results
3
Amino Acid Substitution
2 results
2
Glutaric Aciduria Type I
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2
Glutaryl-Coa Dehydrogenase
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Haplotypes
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Life Sciences & Biomedicine
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Mutation
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Oxidoreductases - Genetics
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Oxidoreductases Acting On Ch-Ch Group Donors
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Polymorphism, Single-Stranded Conformational
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Rflp Haplotypes
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Science & Technology
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3,3'-Diaminobenzidine
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1
Acid Burn
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Adolescent
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Biochemical Research Methods
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Biochemistry & Molecular Biology
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Blotting, Western - Methods
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Cdg
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Chemical Burn
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Sciencedirect®
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Sciencedirect Freedom Collection 2022-2024
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Wiley Online Library Backfiles Complete
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Wiley Online Library Journals
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Wiley Open Access
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