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Incomplete functional deficiencies of the fourth (C4) and second (C2) components of complement in a patient with linear frontoparietal scleroderma and his family. Deficiencies determined by a gene not linked to human leukocyte antigen system.
Venneker GT, van Meegen M, de Kok-Nazaruk M, Hulsmans RF, de Waall LP, Bos JD, Asghar SS. Venneker GT, et al. Among authors: van meegen m. Exp Clin Immunogenet. 1996;13(2):104-11. Exp Clin Immunogenet. 1996. PMID: 9063702
Molecular heterogeneity of second and fourth components of complement and their genes in systemic sclerosis and association of HLA alleles A1, B8 and DR3 with limited and DR5 with diffuse systemic sclerosis.
Venneker GT, van den Hoogen FH, van Meegen M, de Kok-Nazaruk M, Hulsmans RF, Boerbooms AM, de Waal LP, Bos JD, Asghar SS. Venneker GT, et al. Among authors: van den hoogen fh, van meegen m. Exp Clin Immunogenet. 1998;15(2):90-9. doi: 10.1159/000019059. Exp Clin Immunogenet. 1998. PMID: 9691203
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
Eggens VR, Barth PG, Niermeijer JM, Berg JN, Darin N, Dixit A, Fluss J, Foulds N, Fowler D, Hortobágyi T, Jacques T, King MD, Makrythanasis P, Máté A, Nicoll JA, O'Rourke D, Price S, Williams AN, Wilson L, Suri M, Sztriha L, Dijns-de Wissel MB, van Meegen MT, van Ruissen F, Aronica E, Troost D, Majoie CB, Marquering HA, Poll-Thé BT, Baas F. Eggens VR, et al. Among authors: van meegen mt. Orphanet J Rare Dis. 2014 Feb 13;9:23. doi: 10.1186/1750-1172-9-23. Orphanet J Rare Dis. 2014. PMID: 24524299 Free PMC article.
19 results