Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms

Human Molecular Genetics

Volumn 19, Issue 6, 2010, Pages 963-972

  Männikkö, Roope ^a   Jefferies, Craig ^b   Flanagan, Sarah E ^c   Hattersley, Andrew ^c   Ellard, Sian ^c   Ashcroft, Frances M ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b STARSHIP CHILDREN S HOSPITAL   (New Zealand)

^c PENINSULA MEDICAL SCHOOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; ADENOSINE TRIPHOSPHATE MAGNESIUM; GLIBENCLAMIDE; INSULIN; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; LEUCINE; PHENYLALANINE; TYROSINE; VALINE;

ADOLESCENT; AGGRESSION; ANIMAL TISSUE; ARTICLE; CASE REPORT; CHANNEL GATING; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DIABETES MELLITUS; EPILEPSY; GENE MUTATION; HAPLOTYPE; HUMAN; HUMAN CELL; INFANT; MALE; NEUROLOGIC DISEASE; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENICITY; POTASSIUM CURRENT; PRIORITY JOURNAL; XENOPUS LAEVIS;

ADENOSINE TRIPHOSPHATE; ADOLESCENT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; DIABETES COMPLICATIONS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; ION CHANNEL GATING; KATP CHANNELS; MALE; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; NERVOUS SYSTEM DISEASES; POTASSIUM CHANNELS, INWARDLY RECTIFYING; PROTEIN STRUCTURE, SECONDARY; PROTEIN SUBUNITS;

EID: 77950656528     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp554     Document Type: Article

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