OSTEOGENESIS IMPERFECTA TYPE IV: A NEWLY IDENTIFIED VARIANT AT POSITION C.560 (G T; P.GLY187VAL) IN THE COL1A2 GENE

Osteogenesis imperfecta Type IV: a newly identified variant at position c.560 (G T; p.Gly187Val) in the COL1A2 gene

Osteogenesis imperfecta is a clinically heterogenous disease caused by defective collagen syntesis associated with a mutation in the COL1A1 or COL1A2 kelly green visor genes.In this report, we present a case of osteogenesis imperfecta (OI) type IV, seen in a female fetus with incurved femurs at 18 weeks of gestation.Molecular analysis of the vush g

read more

Diagnostic Value of Electrocardiographic T Wave Inversion in Lead aVL in Diagnosing Coronary Artery Disease in Patients with Chronic Stable Angina

Objectives: The clinical value of T wave inversion in lead aVL in diagnosing coronary artery disease (CAD) remains unclear.This study aims to investigate the correlation between aVL T wave inversion and CAD in patients with chronic stable angina.Methods: Electrocardiograms (ECGs) of 257 consecutive patients undergoing coronary angiography were anal

read more

Completion of hepatitis C virus replication cycle in heterokaryons excludes dominant restrictions in human non-liver and mouse liver cell lines.

Hepatitis C virus (HCV) is hepatotropic and only infects humans and chimpanzees.Consequently, an immunocompetent small animal model is lacking.The restricted tropism of HCV likely reflects specific host factor requirements.We investigated if dominant restriction factors expressed in non-liver or non-human cell lines inhibit HCV propagation thus ren

read more