TBC1D24 truncating mutation resulting in severe neurodegeneration

Journal of Medical Genetics

Volumn 50, Issue 3, 2013, Pages 199-202

  Guven, Ayse ^a   Tolun, Aslihan ^a  

^a BOGAZICI UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; REGULATOR PROTEIN; TBC1D24 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BRAIN MAPPING; CODON; DISEASE SEVERITY; EXON; FOCAL EPILEPSY; GENE FUNCTION; GENE SEQUENCE; HUMAN; INTELLECTUAL IMPAIRMENT; MISSENSE MUTATION; MYOCLONUS EPILEPSY; NERVE DEGENERATION; PHENOTYPE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION;

ARABS; CARRIER PROTEINS; DNA MUTATIONAL ANALYSIS; EPILEPSIES, MYOCLONIC; EPILEPSIES, PARTIAL; EUROPEAN CONTINENTAL ANCESTRY GROUP; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HUMANS; INTELLECTUAL DISABILITY; ITALY; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; SYNDROME;

EID: 84874779755     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-101313     Document Type: Article

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