000			02376 a2200709 4500
005			20250518061744.0
264		0	_c20191129
008			201911s 0 0 eng d
022			_a1479-683X
024	7		_a10.1530/EJE-19-0563 _2doi
040			_aNLM _beng _cNLM
100	1		_aKeselman, Ana Claudia
245	0	0	_aA homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency. _h[electronic resource]
260			_bEuropean journal of endocrinology _cNov 2019
300			_aK43-K53 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article
650	0	4	_aAbnormalities, Multiple _xgenetics
650	0	4	_aCell Proliferation
650	0	4	_aComputational Biology
650	0	4	_aComputer Simulation
650	0	4	_aFetal Growth Retardation _xgenetics
650	0	4	_aGrowth Disorders _xgenetics
650	0	4	_aHEK293 Cells
650	0	4	_aHearing Loss, Sensorineural _xgenetics
650	0	4	_aHomozygote
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aInsulin-Like Growth Factor I _xdeficiency
650	0	4	_aMale
650	0	4	_aMutation, Missense _xgenetics
650	0	4	_aPedigree
650	0	4	_aPolymorphism, Single Nucleotide _xgenetics
650	0	4	_aReceptor, IGF Type 1
650	0	4	_aReceptors, Somatomedin _xgenetics
650	0	4	_aTyrosine _xgenetics
700	1		_aMartin, Ayelen
700	1		_aScaglia, Paula Alejandra
700	1		_aSanguineti, Nora María
700	1		_aArmando, Romina
700	1		_aGutiérrez, Mariana
700	1		_aBraslavsky, Débora
700	1		_aBallerini, María Gabriela
700	1		_aRopelato, María Gabriela
700	1		_aRamirez, Laura
700	1		_aLandi, Estefanía
700	1		_aDomené, Sabina
700	1		_aCastro, Julia F
700	1		_aCassinelli, Hamilton
700	1		_aCasali, Bárbara
700	1		_aDel Rey, Graciela
700	1		_aBarros, Ángel Campos
700	1		_aNevado Blanco, Julián
700	1		_aDomené, Horacio
700	1		_aJasper, Héctor
700	1		_aArberas, Claudia
700	1		_aRey, Rodolfo A
700	1		_aLapunzina-Badía, Pablo
700	1		_aBergadá, Ignacio
700	1		_aPennisi, Patricia A
773	0		_tEuropean journal of endocrinology _gvol. 181 _gno. 5 _gp. K43-K53
856	4	0	_uhttps://doi.org/10.1530/EJE-19-0563 _zAvailable from publisher's website
999			_c30130377 _d30130377