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Confirmation of mutations in

Plecko, Barbara

Confirmation of mutations in [electronic resource] - Journal of medical genetics 12 2017 - 809-814 p. digital

Publication Type: Case Reports; Journal Article

ISSN: 1468-6244

Standard No.: 10.1136/jmedgenet-2017-104521 doi

Subjects--Topical Terms:
Adolescent
Adult
Alleles
Child
Child, Preschool
Consanguinity
DNA Mutational Analysis
Electroencephalography
Epilepsy--diagnosis
Female
Gene Frequency
Genetic Association Studies
Genetic Predisposition to Disease
Genotype
Humans
Male
Mutation
Phenotype
Proteins--genetics
Pyridoxine--therapeutic use
Vitamin B 6--blood

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