000 01726 a2200505 4500
005 20250516143726.0
264 0 _c20140127
008 201401s 0 0 eng d
022 _a1098-1004
024 7 _a10.1002/humu.22331
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aCapri, Yline
245 0 0 _aRelevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation.
_h[electronic resource]
260 _bHuman mutation
_cJul 2013
300 _a1018-25 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdolescent
650 0 4 _aCell Line, Tumor
650 0 4 _aCells, Cultured
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aFibroblasts
_xmetabolism
650 0 4 _aGenetic Association Studies
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMonocarboxylic Acid Transporters
_xgenetics
650 0 4 _aMutation
650 0 4 _aPsychomotor Disorders
_xgenetics
650 0 4 _aSeverity of Illness Index
650 0 4 _aSymporters
650 0 4 _aThyroid Hormones
_xmetabolism
700 1 _aFriesema, Edith C H
700 1 _aKersseboom, Simone
700 1 _aTouraine, Renaud
700 1 _aMonnier, Aurélie
700 1 _aEymard-Pierre, Eléonore
700 1 _aDes Portes, Vincent
700 1 _aDe Michele, Giusseppe
700 1 _aBrady, Angela F
700 1 _aBoespflug-Tanguy, Odile
700 1 _aVisser, Theo J
700 1 _aVaurs-Barriere, Catherine
773 0 _tHuman mutation
_gvol. 34
_gno. 7
_gp. 1018-25
856 4 0 _uhttps://doi.org/10.1002/humu.22331
_zAvailable from publisher's website
999 _c22652849
_d22652849