000			02155 a2200661 4500
005			20250514185354.0
264		0	_c20040504
008			200405s 0 0 eng d
022			_a1533-4406
024	7		_a10.1056/NEJMoa032922 _2doi
040			_aNLM _beng _cNLM
100	1		_aGloyn, Anna L
245	0	0	_aActivating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. _h[electronic resource]
260			_bThe New England journal of medicine _cApr 2004
300			_a1838-49 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aDNA Mutational Analysis
650	0	4	_aDevelopmental Disabilities _xgenetics
650	0	4	_aDiabetes Mellitus _xgenetics
650	0	4	_aEpilepsy _xgenetics
650	0	4	_aFace _xabnormalities
650	0	4	_aFemale
650	0	4	_aHeterozygote
650	0	4	_aHumans
650	0	4	_aInfant, Newborn
650	0	4	_aIslets of Langerhans _xmetabolism
650	0	4	_aMale
650	0	4	_aMutation
650	0	4	_aPedigree
650	0	4	_aPotassium Channels, Inwardly Rectifying _xchemistry
650	0	4	_aSequence Analysis, DNA
700	1		_aPearson, Ewan R
700	1		_aAntcliff, Jennifer F
700	1		_aProks, Peter
700	1		_aBruining, G Jan
700	1		_aSlingerland, Annabelle S
700	1		_aHoward, Neville
700	1		_aSrinivasan, Shubha
700	1		_aSilva, José M C L
700	1		_aMolnes, Janne
700	1		_aEdghill, Emma L
700	1		_aFrayling, Timothy M
700	1		_aTemple, I Karen
700	1		_aMackay, Deborah
700	1		_aShield, Julian P H
700	1		_aSumnik, Zdenek
700	1		_avan Rhijn, Adrian
700	1		_aWales, Jerry K H
700	1		_aClark, Penelope
700	1		_aGorman, Shaun
700	1		_aAisenberg, Javier
700	1		_aEllard, Sian
700	1		_aNjølstad, Pål R
700	1		_aAshcroft, Frances M
700	1		_aHattersley, Andrew T
773	0		_tThe New England journal of medicine _gvol. 350 _gno. 18 _gp. 1838-49
856	4	0	_uhttps://doi.org/10.1056/NEJMoa032922 _zAvailable from publisher's website
999			_c14826484 _d14826484