Journal article

MLYCD mutation analysis: Evidence for protein mistargeting as a cause of MLYCD deficiency

PJ Wightman, R Santer, A Ribes, F Dougherty, N McGill, DR Thorburn, DR FitzPatrick

Human Mutation | WILEY | Published : 2003

DOI: 10.1002/humu.10264

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Keywords

Forms
Cell Line
Expression
Carboxy-Lyases
Humans
Immunohistochemistry
Life Sciences & Biomedicine
Fatty Acid Metabolism
Mlycd
Sequence
Peroxisomes
Amino Acid Sequence
Malonyl-Coa Decarboxylase
Science & Technology
Database
Child, Preschool
Sequence Analysis, Protein
Sequence Homology, Amino Acid
Insights
Coenzyme
Male
Mistargeting
Cdna
Child
Deficiency Diseases
Carnitine Palmitoyltransferase-I
Blotting, Western
Adolescent
Female
Malonyl-Coa Decarboxylase Deficiency
Molecular Sequence Data
Dna Mutational Analysis
Infant
Mitochondria
Sequence Analysis, Rna
Protein Transport
Genetics & Heredity
Base Sequence
Cloning