Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia

American Journal of Human Genetics

Volumn 85, Issue 5, 2009, Pages 737-744

  Abdollahi, Mohammad R ^a   Morrison, Ewan ^a   Sirey, Tamara ^b   Molnar, Zoltan ^b   Hayward, Bruce E ^a   Carr, Ian M ^a   Springell, Kelly ^a   Woods, C Geoff ^c   Ahmed, Mushtaq ^d   Hattingh, Louise ^e   Corry, Peter ^f   Pilz, Daniela T ^g   Stoodley, Neil ^h   Crow, Yanick ⁱ   Taylor, Graham R ^a   Bonthron, David T ^a   Sheridan, Eamonn ^a  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b Department of Anatomy Physiology and Genetics ^*  (United Kingdom)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d CHAPEL ALLERTON HOSPITAL   (United Kingdom)

^e BRADFORD ROYAL INFIRMARY   (United Kingdom)

^f ST LUKE S HOSPITAL   (United Kingdom)

^g UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^h FRENCHAY HOSPITAL   (United Kingdom)

ⁱ UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TUBULIN;

ACETYLATION; ANATOMY; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN CORTEX; CASE REPORT; CELL MIGRATION; GENE EXPRESSION; GENE MUTATION; GENETIC VARIABILITY; HUMAN; INFANT; MICROGYRIA; OPTIC NERVE HYPOPLASIA; PRIORITY JOURNAL; TUBA8 GENE;

BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; FEMALE; GENE EXPRESSION; GENES, RECESSIVE; GENETIC VARIATION; HUMANS; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR FAMILY; OPTIC NERVE DISEASES; PAKISTAN; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN ISOFORMS; SYNDROME; TUBULIN;

MAMMALIA;

EID: 71849097199     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.10.007     Document Type: Article

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