A mutation in an alternative untranslated exon of hexokinase 1 associated with Hereditary Motor and Sensory Neuropathy - Russe (HMSNR)

European Journal of Human Genetics

Volumn 17, Issue 12, 2009, Pages 1606-1614

  Hantke, Janina ^a,b   Chandler, David ^a   King, Rosalind ^b   Wanders, Ronald J A ^c   Angelicheva, Dora ^a   Tournev, Ivailo ^d,e   McNamara, Elyshia ^a   Kwa, Marcel ^c   Guergueltcheva, Velina ^d   Kaneva, Radka ^d   Baas, Frank ^c   Kalaydjieva, Luba ^a  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

^d MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^e NEW BULGARIAN UNIVERSITY   (Bulgaria)

Author keywords

[No Author keywords available]

Indexed keywords

HEXOKINASE 1; MESSENGER RNA;

5' UNTRANSLATED REGION; ALTERNATIVE RNA SPLICING; APOPTOSIS; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENERGY YIELD; EXON; GENE EXPRESSION; GENE FREQUENCY; GENE FUNCTION; GENE IDENTIFICATION; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENE MUTATION; GENE STRUCTURE; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MITOCHONDRIAL MEMBRANE; NUCLEOTIDE SEQUENCE; PERIPHERAL NERVE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; REGULATORY MECHANISM; SEQUENCE ANALYSIS; TRANSLATION REGULATION;

5' UNTRANSLATED REGIONS; ALTERNATIVE SPLICING; ANIMALS; EXONS; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HEXOKINASE; HUMANS; IMMUNOHISTOCHEMISTRY; MICE; MUTATION; NERVOUS SYSTEM PHYSIOLOGICAL PHENOMENA; PERIPHERAL NERVES; PHYSICAL CHROMOSOME MAPPING; PROTEIN BIOSYNTHESIS;

EID: 70450265609     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.99     Document Type: Article

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