Associated Papers
Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of CDC73 Gene and Parafibromin-Deficient Tumours.
Gheorghe AM et al.
International Journal of Molecular Sciences, 2024
The ATP Synthase Deficiency in Human Diseases.
Galber C et al.
Life (basel, Switzerland), 2021
Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.
Sarparanta J et al.
International Journal of Molecular Sciences, 2020
Solution structure and functional investigation of human guanylate kinase reveals allosteric networking and a crucial role for the enzyme in cancer.
Khan N et al.
The Journal of Biological Chemistry, 2019
5'UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia.
Marconi C et al.
Journal of Hematology & Oncology, 2017
28100250 (PubMed )
Supplement: 13045_2016_382_MOESM1_ESM.docx
INS-gene mutations: from genetics and beta cell biology to clinical disease.
Liu M et al.
Molecular Aspects of Medicine, 2015
Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.
Reiss J et al.
American Journal of Human Genetics, 1999
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