Next Generation Sequencing Technologies in Medical Genetics

Next Generation Sequencing Technologies in Medical Genetics

This book introduces readers to Next Generation Sequencing applications in medical genetics. The authors discuss the direct application of next-generation sequencing to medicine, specifically, laboratory medicine or molecular diagnostics. The first part of the book contains chapters on sanger sequencing, NGS technologies, targeted-amplification and capture, and exome sequencing. The second part of the book focuses […]

USMLE Step 1 Lecture Notes 2018: Biochemistry and Medical Genetics

USMLE Step 1 Lecture Notes 2018: Biochemistry and Medical Genetics

Kaplan Medical’s USMLE Step 1 Lecture Notes 2018: Biochemistry and Medical Genetics offers in-depth review with a focus on high-yield topics – a comprehensive approach that will help you deepen your understanding while focusing your efforts where they’ll count the most. Used by thousands of medical students each year to succeed on USMLE Step 1, […]

Association Between Genetic Variations of Apo AI-CIII-AIV Cluster Gene and Hypertriglyceridemic Subjects (Molecular Pathology and Genetics)

Association Between Genetic Variations of Apo AI-CIII-AIV Cluster Gene and Hypertriglyceridemic Subjects (Molecular Pathology and Genetics)

Rather than single gene defect, impaired functions in two or more of the many genes that control lipid transport and metabolism have been suspected to cause inherited lipoprotein disorders or atherosclerosis. The apolipoprotein (apo) AI-CIII-AIV cluster gene is one of such groups. (5) The products of apo AI, CIII, and AIV genes, together with apo […]

Hematology, Immunology and Genetics

Hematology, Immunology and Genetics

Dr. Richard Polin’s Neonatology Questions and Controversies series highlights the most challenging aspects of neonatal care, offering trustworthy guidance on up-to-date diagnostic and treatment options in the field. In each volume, renowned experts address the clinical problems of greatest concern to today’s practitioners, helping you handle difficult practice issues and provide optimal, evidence-based care to […]

C677T and AI298C Polymorphisms of the Methylenetetrahydrofolate Reductase Gene: Incidence and Effect of Combined Genotypes on Plasma Fasting and Post-Methionine Load Homocysteine in Vascular Disease (Molecular Diagnostics and Genetics)

C677T and AI298C Polymorphisms of the Methylenetetrahydrofolate Reductase Gene: Incidence and Effect of Combined Genotypes on Plasma Fasting and Post-Methionine Load Homocysteine in Vascular Disease (Molecular Diagnostics and Genetics)

The enzyme methylenetetrahydrofolate reductase (MTHFR;[1] EC 1.5.1.20) plays a critical role in homocysteine metabolism by catalyzing the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the methyl-group donor in the [B.sub.12] dependent remethylation of homocysteine to methionine. Severe deficiency of the MTHFR enzyme leads to homocystinuria, a rare inborn error of metabolism characterized by highly increased blood and […]