Associated Papers
Targeted sequencing of selected functional genes in patients with wild-type transthyretin amyloidosis.
Moreno-Gázquez I et al.
Bmc Research Notes, 2023
Transferrin gene polymorphisms alter the transferrin focusing pattern, making congenital disorder of glycosylation diagnosis difficult.
Lipiński P et al.
Acta Biochimica Polonica, 2021
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers.
Park JH et al.
Pediatric Nephrology (berlin, Germany), 2016
Transferrin variants: pitfalls in the diagnostics of Congenital disorders of glycosylation.
Zühlsdorf A et al.
Clinical Biochemistry, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
Human transferrin G277S mutation: a risk factor for iron deficiency anaemia.
Lee PL et al.
British Journal of Haematology, 2001
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