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1.
ANGPTL4 variants E40K and T266M are associated with lower fasting triglyceride levels in Non-Hispanic White Americans from the Look AHEAD Clinical Trial.
BMC Med Genet
; 12: 89, 2011 Jun 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-21714923
2.
The µ-opioid receptor variant N190K is unresponsive to peptide agonists yet can be rescued by small-molecule drugs.
Mol Pharmacol
; 78(5): 837-45, 2010 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-20702761
3.
Little ROCK is a ROCK1 pseudogene expressed in human smooth muscle cells.
BMC Genet
; 11: 22, 2010 Apr 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-20398283
4.
The KCNMB1 E65K variant is associated with reduced central pulse pressure in the community-based Framingham Offspring Cohort.
J Hypertens
; 27(1): 55-60, 2009 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-19050450
5.
Application of gene network analysis techniques identifies AXIN1/PDIA2 and endoglin haplotypes associated with bicuspid aortic valve.
PLoS One
; 5(1): e8830, 2010 Jan 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-20098615
6.
Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: Broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations.
Blood
; 102(9): 3210-6, 2003 Nov 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-12816860
7.
Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein.
Blood
; 101(1): 173-7, 2003 Jan 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-12393490
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