TY  - GEN
AU  - Gloyn,Anna L
AU  - Pearson,Ewan R
AU  - Antcliff,Jennifer F
AU  - Proks,Peter
AU  - Bruining,G Jan
AU  - Slingerland,Annabelle S
AU  - Howard,Neville
AU  - Srinivasan,Shubha
AU  - Silva,José M C L
AU  - Molnes,Janne
AU  - Edghill,Emma L
AU  - Frayling,Timothy M
AU  - Temple,I Karen
AU  - Mackay,Deborah
AU  - Shield,Julian P H
AU  - Sumnik,Zdenek
AU  - van Rhijn,Adrian
AU  - Wales,Jerry K H
AU  - Clark,Penelope
AU  - Gorman,Shaun
AU  - Aisenberg,Javier
AU  - Ellard,Sian
AU  - Njølstad,Pål R
AU  - Ashcroft,Frances M
AU  - Hattersley,Andrew T
TI  - Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes
SN  - 1533-4406
PY  - 2004///0504
KW  - DNA Mutational Analysis
KW  - Developmental Disabilities
KW  - genetics
KW  - Diabetes Mellitus
KW  - Epilepsy
KW  - Face
KW  - abnormalities
KW  - Female
KW  - Heterozygote
KW  - Humans
KW  - Infant, Newborn
KW  - Islets of Langerhans
KW  - metabolism
KW  - Male
KW  - Mutation
KW  - Pedigree
KW  - Potassium Channels, Inwardly Rectifying
KW  - chemistry
KW  - Sequence Analysis, DNA
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1056/NEJMoa032922
ER  -