000 02220 a2200781 4500
005 20250514045631.0
264 0 _c20021213
008 200212s 0 0 eng d
022 _a1468-6244
024 7 _a10.1136/jmg.39.10.722
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aVan Maldergem, L
245 0 0 _aGenotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.
_h[electronic resource]
260 _bJournal of medical genetics
_cOct 2002
300 _a722-33 p.
_bdigital
500 _aPublication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdolescent
650 0 4 _aAdult
650 0 4 _aAge of Onset
650 0 4 _aAlleles
650 0 4 _aCohort Studies
650 0 4 _aFemale
650 0 4 _aGTP-Binding Protein gamma Subunits
650 0 4 _aGenotype
650 0 4 _aHeterotrimeric GTP-Binding Proteins
_xgenetics
650 0 4 _aHumans
650 0 4 _aHyperlipidemias
_xgenetics
650 0 4 _aInfant
650 0 4 _aInfant, Newborn
650 0 4 _aLipodystrophy
_xcongenital
650 0 4 _aMale
650 0 4 _aMutation
_xgenetics
650 0 4 _aPedigree
650 0 4 _aPhenotype
650 0 4 _aProtein Isoforms
_xgenetics
700 1 _aMagré, J
700 1 _aKhallouf, T E
700 1 _aGedde-Dahl, T
700 1 _aDelépine, M
700 1 _aTrygstad, O
700 1 _aSeemanova, E
700 1 _aStephenson, T
700 1 _aAlbott, C S
700 1 _aBonnici, F
700 1 _aPanz, V R
700 1 _aMedina, J L
700 1 _aBogalho, P
700 1 _aHuet, F
700 1 _aSavasta, S
700 1 _aVerloes, A
700 1 _aRobert, J J
700 1 _aLoret, H
700 1 _aDe Kerdanet, M
700 1 _aTubiana-Rufi, N
700 1 _aMégarbané, A
700 1 _aMaassen, J
700 1 _aPolak, M
700 1 _aLacombe, D
700 1 _aKahn, C R
700 1 _aSilveira, E L
700 1 _aD'Abronzo, F H
700 1 _aGrigorescu, F
700 1 _aLathrop, M
700 1 _aCapeau, J
700 1 _aO'Rahilly, S
773 0 _tJournal of medical genetics
_gvol. 39
_gno. 10
_gp. 722-33
856 4 0 _uhttps://doi.org/10.1136/jmg.39.10.722
_zAvailable from publisher's website
999 _c12173925
_d12173925