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PRKDC mutations in a SCID patient with profound neurological abnormalities.
Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
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PRKDC mutations in a SCID patient with profound neurological abnormalities.
PRKDC mutations in a SCID patient with profound neurological abnormalities. J Clin Invest. 2013 Jul; 123(7):2969-80.
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PubMed
subject areas
Abnormalities, Multiple
Amino Acid Sequence
Base Sequence
Brain
Cell Line
Child, Preschool
Conserved Sequence
DNA Mutational Analysis
DNA Repair
DNA-Activated Protein Kinase
Fatal Outcome
Genetic Association Studies
Humans
Male
Microcephaly
Molecular Diagnostic Techniques
Molecular Sequence Data
Mutation, Missense
Nuclear Proteins
Point Mutation
Severe Combined Immunodeficiency
authors with profiles
William B. Dobyns