Publications:

Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study.

Orphanet Journal Of Rare Diseases

Schmidt, Eeva-Kaisa EK; Mustonen, Tuuli T; Kiuru-Enari, Sari S; Kivelä, Tero T TT; Atula, Sari S

Publication Date: 2020-01-17

Variant appearance in text: HP: L68Q

PubMed Link: 31952544

Variant Present in the following documents:

• 13023_2020_Article_1300.pdf

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Gelsolin pathogenic Gly167Arg mutation promotes domain-swap dimerization of the protein.

Human Molecular Genetics

Bonì, Francesco F; Milani, Mario M; Barbiroli, Alberto A; Diomede, Luisa L; Mastrangelo, Eloise E; de Rosa, Matteo M

Publication Date: 2018-01-01

Variant appearance in text: HP: Leu68Gln

PubMed Link: 29069428

Variant Present in the following documents:

• Main text
• ddx383.pdf

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HPLC estimation of iothalamate to measure glomerular filtration rate in humans.

Chemistry Central Journal

Shah, Iltaf I; Barker, James J; Naughton, Declan P DP; Barton, Stephen J SJ; Ashraf, Syed Salman SS

Publication Date: 2016

Variant appearance in text: HP: L68Q

PubMed Link: 28028385

Variant Present in the following documents:

• 13065_2016_Article_227.pdf

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Evidence of Alternative Cystatin C Signal Sequence Cleavage Which Is Influenced by the A25T Polymorphism.

Plos One

Nguyen, Annie A; Hulleman, John D JD

Publication Date: 2016

Variant appearance in text: HP: Leu68Gln

PubMed Link: 26845025

Variant Present in the following documents:

• Main text
• pone.0147684.pdf

View BVdb publication page