Varaico: Literature-Extracted Genetic Variants

Gene:AMPD1
Variant:p.Q156H
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AMPD1

NM_000036.3:p.Q156H

Associated Papers

Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency.

Rannou F et al.

Plos One, 2017

DNA sequence polymorphism within the bovine adenosine monophosphate deaminase 1 (AMPD1) is associated with production traits in Chinese cattle.

Wei CB et al.

Genetics and Molecular Research : Gmr, 2015

The sarcomeric M-region: a molecular command center for diverse cellular processes.

Hu LY et al.

Biomed Research International, 2015

AMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseases.

Safranow K et al.

Journal of Applied Genetics, 2011

A novel 18-bp deletion mutation of the AMPD1 gene affects carcass traits in Qinchuan cattle.

He H et al.

Molecular Biology Reports, 2010

The effect of AMPD1 genotype on blood flow response to sprint exercise.

Norman B et al.

European Journal of Applied Physiology, 2008

AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance.

Hanisch F et al.

Journal of Neurology, 2008

AMP deaminase deficiency is associated with lower sprint cycling performance in healthy subjects.

Fischer H et al.

Journal of Applied Physiology (bethesda, Md. : 1985), 2007

Ecto- and cytosolic 5'-nucleotidases in normal and AMP deaminase-deficient human skeletal muscle.

Hanisch F et al.

Biological Chemistry, 2006

Association between AMPD1 gene polymorphism and coagulation factors in patients with coronary heart disease.

Agewall S et al.

Pathophysiology of Haemostasis and Thrombosis, 2006

Frequency of the C34T mutation of the AMPD1 gene in world-class endurance athletes: does this mutation impair performance?

Rubio JC et al.

Journal of Applied Physiology (bethesda, Md. : 1985), 2005

Variation in the gene for muscle-specific AMP deaminase is associated with insulin clearance, a highly heritable trait.

Goodarzi MO et al.

Diabetes, 2005

Haplotype analysis of human AMPD1 gene: origin of common mutant allele.

Toyama K et al.

Journal of Medical Genetics, 2004

Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.

Olpin SE et al.

Journal of Inherited Metabolic Disease, 2003

A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population.

Gross M et al.

Neuromuscular Disorders : Nmd, 2002

Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases.

Teijeira S et al.

Clinical Neuropathology, 0

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