000 01308 a2200385 4500
005 20250516125604.0
264 0 _c20130723
008 201307s 0 0 eng d
022 _a1096-0961
024 7 _a10.1016/j.bcmd.2012.11.010
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aMarchi, Rita
245 0 0 _aA novel mutation in the FGB: c.1105C>T turns the codon for amino acid Bβ Q339 into a stop codon causing hypofibrinogenemia.
_h[electronic resource]
260 _bBlood cells, molecules & diseases
_cMar 2013
300 _a177-81 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aAdolescent
650 0 4 _aAfibrinogenemia
_xblood
650 0 4 _aBlood Coagulation
650 0 4 _aCodon, Nonsense
650 0 4 _aFibrin
_xmetabolism
650 0 4 _aFibrinogen
_xgenetics
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMutation
650 0 4 _aProtein Multimerization
700 1 _aBrennan, Stephen
700 1 _aMeyer, Michael
700 1 _aRojas, Héctor
700 1 _aKanzler, Daniela
700 1 _aDe Agrela, Marisela
700 1 _aRuiz-Saez, Arlette
773 0 _tBlood cells, molecules & diseases
_gvol. 50
_gno. 3
_gp. 177-81
856 4 0 _uhttps://doi.org/10.1016/j.bcmd.2012.11.010
_zAvailable from publisher's website
999 _c22370910
_d22370910