Associated Papers
Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation.
Saveri P et al.
Cells, 2020
32326241 (PubMed )
Supplement: cells-09-01028-s001.zip › Table_S3.xlsx › 2449_S14_L001_annot_extract.tab
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index
Uniparental disomy causes deficiencies of vitamin K-dependent proteins.
Dasi MA et al.
Journal of Thrombosis and Haemostasis : Jth, 2016
[From gene to disease; primary erythermalgia--a neuropathic disease as a consequence of mutations in a sodium pump gene].
Drenth JP et al.
Nederlands Tijdschrift Voor Geneeskunde, 2006
SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels.
Drenth JP et al.
The Journal of Investigative Dermatology, 2005
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