Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

New England Journal of Medicine

Volumn 350, Issue 18, 2004, Pages 1838-1849

  Gloyn, Anna L ^a   Pearson, Ewan R ^a   Antcliff, Jennifer F ^b   Proks, Peter ^b   Bruining, G Jan ^c   Slingerland, Annabelle S ^c   Howard, Neville ^d   Srinivasan, Shubha ^d   Silva, José M C L ^e   Molnes, Janne ^f   Edghill, Emma L ^a   Frayling, Timothy M ^a   Temple, I Karen ^g   Mackay, Deborah ^h   Shield, Julian P H ⁱ   Sumnik, Zdenek ^j   Van Rhijn, Adrian ^k   Wales, Jerry K H ^l   Clark, Penelope ^m   Gorman, Shaun ⁿ   Aisenberg, Javier ^o   Ellard, Sian ^a   Njølstad, Pål R ^f   Ashcroft, Frances M ^b   Hattersley, Andrew T ^a   more..

^a PENINSULA MEDICAL SCHOOL   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^d CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^e Piaui State Univ Medical School   (Brazil)

^f UNIVERSITY OF BERGEN   (Norway)

^g UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^h SALISBURY DISTRICT HOSPITAL   (United Kingdom)

ⁱ Royal Hospital for Children   (United Kingdom)

^j CHARLES UNIVERSITY   (Czech Republic)

^k MEANDER MEDICAL CENTER   (Netherlands)

^l SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^m Regional Endocrine Laboratory   (United Kingdom)

ⁿ ST LUKE S HOSPITAL   (United Kingdom)

^o HACKENSACK UNIVERSITY MEDICAL CENTER   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; ADENOSINE TRIPHOSPHATE SENSITIVE POTASSIUM CHANNEL; GLUCAGON; GLUCOSE; INSULIN; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; MUTANT PROTEIN; POTASSIUM CHANNEL; SULFONYLUREA; SULFONYLUREA RECEPTOR; TOLBUTAMIDE; INWARDLY RECTIFYING POTASSIUM CHANNEL;

ACTIVATING MUTATION; ANIMAL CELL; ARTICLE; CHILD; CLINICAL ARTICLE; DEVELOPMENTAL DELAY; DEVELOPMENTAL DISORDER; DIABETES MELLITUS; EPILEPSY; FAMILIAL DISEASE; FEMALE; GENE; GENE MUTATION; HUMAN; HYPERGLYCEMIA; INFANT; INSULIN RELEASE; INSULIN TREATMENT; KCNJ11 GENE; KETOACIDOSIS; MALE; MISSENSE MUTATION; MUSCLE WEAKNESS; NEWBORN; NEWBORN DISEASE; NONHUMAN; PERMANENT NEONATAL DIABETES MELLITUS; PRIORITY JOURNAL; TERATOLOGY; XENOPUS LAEVIS; CHEMISTRY; CONGENITAL MALFORMATION; DNA SEQUENCE; FACE; GENETICS; HETEROZYGOTE; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PANCREAS ISLET; PEDIGREE;

DEVELOPMENTAL DISABILITIES; DIABETES MELLITUS; DNA MUTATIONAL ANALYSIS; EPILEPSY; FACE; FEMALE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; ISLETS OF LANGERHANS; MALE; MUTATION; PEDIGREE; POTASSIUM CHANNELS, INWARDLY RECTIFYING; SEQUENCE ANALYSIS, DNA;

EID: 2342633204     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJMoa032922     Document Type: Article

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