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A novel functional polymorphism within the promoter of the serotonin transporter gene: possible role in susceptibility to affective disorders.
The serotonin transporter (5-HTT) is a candidate locus for aetiological involvement in affective disorders. Biochemical studies in suicides and depressed patients suggest that 5-HT uptake function isExpand
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The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.
About 60% of both Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) is due to deletions of the dystrophin gene. For cases with a deletion mutation, the "reading frame" hypothesisExpand
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VKORC1 haplotypes and their impact on the inter-individual and inter-ethnical variability of oral anticoagulation.
In order to elucidate the role of VCORC1 sequence variants in warfarin sensitivity, we established a complete SNP map of the VKORC1 gene locus in 200 blood donors from Western Germany. Nearly all ofExpand
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The Genetic Basis of Resistance to Anticoagulants in Rodents
Anticoagulant compounds, i.e., derivatives of either 4-hydroxycoumarin (e.g., warfarin, bromadiolone) or indane-1,3-dione (e.g., diphacinone, chlorophacinone), have been in worldwide use asExpand
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Novel mutations in the VKORC1 gene of wild rats and mice – a response to 50 years of selection pressure by warfarin?
BackgroundCoumarin derivatives have been in world-wide use for rodent pest control for more than 50 years. Due to their retarded action as inhibitors of blood coagulation by repression of the vitaminExpand
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Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular disorder with a wide clinical variability. Contractions of the D4Z4 macrosatellite repeat on chromosome 4q35 are theExpand
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Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
Dominant mutations in the skeletal muscle ryanodine receptor (RYR1) gene are well-recognized causes of both malignant hyperthermia susceptibility (MHS) and central core disease (CCD). More recently,Expand
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A standardized framework for the validation and verification of clinical molecular genetic tests
TLDR
The validation and verification of laboratory methods and procedures before their use in clinical testing is essential for providing a safe and useful service to clinicians. Expand
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Human Vitamin K 2,3-Epoxide Reductase Complex Subunit 1-like 1 (VKORC1L1) Mediates Vitamin K-dependent Intracellular Antioxidant Function*
Human vitamin K 2,3-epoxide reductase complex subunit 1-like 1 (VKORC1L1), expressed in HEK 293T cells and localized exclusively to membranes of the endoplasmic reticulum, was found to support bothExpand
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European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility.
It is 30 yr since the British Journal of Anaesthesia published the first consensus protocol for the laboratory diagnosis of malignant hyperthermia susceptibility from the European MalignantExpand
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