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Biochemistry and molecular biology international, 1993
Rat calpastatin cDNAs obtained by RT-PCR method were isolated and directly sequenced; this allowed the identification of two new variants both characterized by a 23 amino acids deletion at the end of the unique N-terminal domain L, increasing the number of functional isoforms.
A, Servadio, G, Casari
openaire +1 more source

Novel genetic variant in hereditary spastic paraparesis

BMJ Case Reports
A man in his 30s was referred to neurology with right-sided paraesthesia, tremors, chest pain and lower urinary tract and erectile dysfunction. He had a medical history of left acetabular dysplasia, and subjective memory impairment, the latter being in the context of depression and chronic pain with opioid use. There was no notable family history.
Kathryn A W Knight +3 more
openaire +3 more sources

Novel TLR7 variant causes lupus

Nature Reviews Rheumatology, 2022
openaire +2 more sources

Magnetic resonance linear accelerator technology and adaptive radiation therapy: An overview for clinicians

Ca-A Cancer Journal for Clinicians, 2022
William A Hal, X Allen Li, Daniel A Low
exaly

Haemoglobin Graz, a novel haemoglobin variant