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Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria

O'Driscoll, MC; Daly, SB; Urquhart, JE; Black, GC; Pilz, DT; Brockmann, K; McEntagart, M; Abdel-Salam, G; Zaki, M; Wolf, NI; et al. O'Driscoll, MC; Daly, SB; Urquhart, JE; Black, GC; Pilz, DT; Brockmann, K; McEntagart, M; Abdel-Salam, G; Zaki, M; Wolf, NI; Ladda, RL; Sell, S; D'Arrigo, S; Squier, W; Dobyns, WB; Livingston, JH; Crow, YJ (2010) Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria. AMERICAN JOURNAL OF HUMAN GENETICS, 87 (3). 354 - 364 (11). ISSN 0002-9297 https://doi.org/10.1016/j.ajhg.2010.07.012
SGUL Authors: McEntagart, Meriel

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Item Type: Article
Additional Information: PubMed ID: 20727516
Keywords: Animals, Base Sequence, Calcinosis, Cerebral Cortex, Chromosomes, Human, Pair 5, Consanguinity, DNA Mutational Analysis, Gene Expression Regulation, Homozygote, Humans, In Situ Hybridization, Infant, Infant, Newborn, Magnetic Resonance Imaging, Malformations of Cortical Development, Membrane Proteins, Mice, Molecular Sequence Data, Mutation, Occludin, Software, Tight Junctions, Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, CONGENITAL CYTOMEGALOVIRUS-INFECTION, POLARIZED EPITHELIAL-CELLS, BLOOD-BRAIN-BARRIER, INTRACRANIAL CALCIFICATION, NEURONAL MIGRATION, CEREBRAL-CORTEX, UNLAYERED POLYMICROGYRIA, ENDOTHELIAL-CELLS, MEMBRANE-PROTEIN, GOLGI ANALYSIS
SGUL Research Institute / Research Centre: Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) > Cell Sciences (INCCCS)
Journal or Publication Title: AMERICAN JOURNAL OF HUMAN GENETICS
ISSN: 0002-9297
Dates:
DateEvent
10 September 2010Published
Web of Science ID: WOS:000281923500004
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URI: https://openaccess.sgul.ac.uk/id/eprint/101175
Publisher's version: https://doi.org/10.1016/j.ajhg.2010.07.012

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