Albert Amberger
Innsbruck, 6020, Austria
Last Updated: 09/26/2026
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Found 20 publications
The Tyrolean Founder MLH1 Variant c.836T>G Causes Lynch Syndrome Due to a Leaky Splice Effect.
Journal: Biomolecules
Published: July 02, 2026
Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants.
Journal: NPJ precision oncology
Published: October 13, 2023
Degradation of collagen I by activated C1s in periodontal Ehlers-Danlos Syndrome.
Journal: Frontiers in immunology
Published: February 02, 2023
Correction to: Lost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism.
Journal: Cellular and molecular life sciences : CMLS
Published: December 22, 2022
ost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism.
Journal: Cellular and molecular life sciences : CMLS
Published: April 04, 2022
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Journal: American journal of human genetics
Published: August 24, 2021
Corrigendum: C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome.
Journal: Frontiers in immunology
Published: November 15, 2019
AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides.
Journal: Human mutation
Published: September 25, 2019
Two Different Missense C1S Mutations, Associated to Periodontal Ehlers-Danlos Syndrome, Lead to Identical Molecular Outcomes.
Journal: Frontiers in immunology
Published: September 02, 2019
C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome.
Journal: Frontiers in immunology
Published: July 30, 2019
Structural insight into the human mitochondrial tRNA purine N1-methyltransferase and ribonuclease P complexes.
Journal: The Journal of biological chemistry
Published: December 12, 2017
Carnosine Catalyzes the Formation of the Oligo/Polymeric Products of Methylglyoxal.
Journal: Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology
Published: August 29, 2017
Last Updated: 09/26/2026