000			02421 a2200757 4500
005			20250516201028.0
264		0	_c20140501
008			201405s 0 0 eng d
022			_a1537-6605
024	7		_a10.1016/j.ajhg.2014.01.018 _2doi
040			_aNLM _beng _cNLM
100	1		_aHervé, Dominique
245	0	0	_aLoss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia. _h[electronic resource]
260			_bAmerican journal of human genetics _cMar 2014
300			_a385-94 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdolescent
650	0	4	_aAdult
650	0	4	_aBlood Platelets _xmetabolism
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aCyclic GMP _xmetabolism
650	0	4	_aEsophageal Achalasia _xmetabolism
650	0	4	_aFemale
650	0	4	_aGenotype
650	0	4	_aGuanylate Cyclase _xgenetics
650	0	4	_aHomozygote
650	0	4	_aHumans
650	0	4	_aMale
650	0	4	_aMoyamoya Disease _xmetabolism
650	0	4	_aMuscle, Smooth, Vascular _xmetabolism
650	0	4	_aMutation
650	0	4	_aNitric Oxide _xchemistry
650	0	4	_aPedigree
650	0	4	_aPlatelet Adhesiveness
650	0	4	_aPlatelet Aggregation
650	0	4	_aReceptors, Cytoplasmic and Nuclear _xgenetics
650	0	4	_aSoluble Guanylyl Cyclase
650	0	4	_aYoung Adult
700	1		_aPhilippi, Anne
700	1		_aBelbouab, Reda
700	1		_aZerah, Michel
700	1		_aChabrier, Stéphane
700	1		_aCollardeau-Frachon, Sophie
700	1		_aBergametti, Francoise
700	1		_aEssongue, Aurore
700	1		_aBerrou, Eliane
700	1		_aKrivosic, Valérie
700	1		_aSainte-Rose, Christian
700	1		_aHoudart, Emmanuel
700	1		_aAdam, Frédéric
700	1		_aBilliemaz, Kareen
700	1		_aLebret, Marilyne
700	1		_aRoman, Sabine
700	1		_aPassemard, Sandrine
700	1		_aBoulday, Gwenola
700	1		_aDelaforge, Audrey
700	1		_aGuey, Stéphanie
700	1		_aDray, Xavier
700	1		_aChabriat, Hugues
700	1		_aBrouckaert, Peter
700	1		_aBryckaert, Maryjke
700	1		_aTournier-Lasserve, Elisabeth
773	0		_tAmerican journal of human genetics _gvol. 94 _gno. 3 _gp. 385-94
856	4	0	_uhttps://doi.org/10.1016/j.ajhg.2014.01.018 _zAvailable from publisher's website
999			_c23597236 _d23597236