Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16

Autor: Gerard Tromp, Kuivaniemi H, Raphael S, Ala-Kokko L, Christiano A, Considine E, Dhulipala R, Hyland J, Jokinen A, Kivirikko S, Korn R, Madhatheri S, McCarron S, Pulkkinen L, Punnett H, Shimoya K, Spotila L, Tate A, Cj, Williams

Publikováno v: Europe PubMed Central

Blau syndrome (MIM 186580), first described in a large, three-generation kindred, is an autosomal, dominantly inherited disease characterized by multiorgan, tissue-specific inflammation. Its clinical phenotype includes granulomatous arthritis, skin r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::13c107e56ef45c0ebd1f600eff3ded27
https://pubmed.ncbi.nlm.nih.gov/8900239

Exclusion of mutations in the gene for type iii collagen (col3a1) as a common cause of intracranial aneurysms or cervical artery dissections: Results from sequence analysis of the coding sequences of type iii collagen from 55 unrelated patients

Autor: Kuivaniemi, H., Prockop, D. J., Wu, Y., Madhatheri, S. L., Kleinert, C., Earley, J. J., Jokinen, A., Stolle, C., Majamaa, K., Myllylä, V. V., Norrgård, Ö, Schievink, W. I., Mokri, B., Fukawa, O., Ter Berg, J. W. M., Paepe, A., Lozano, A. M., Leblanc, R., Ryynänen, M., Baxter, B. T., Shikata, H., Ferrell, R. E., Gerard Tromp

Publikováno v: Scopus-Elsevier

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http://www.scopus.com/inward/record.url?eid=2-s2.0-0027730917&partnerID=MN8TOARS

Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16

Autor: Tromp, G., Helena Kuivaniemi, Raphael, S., Ala-Kokko, L., Christiano, A., Considine, E., Dhulipala, R., Hyland, J., Jokinen, A., Kivirikko, S., Korn, R., Madhatheri, S., Mccarron, S., Pulkkinen, L., Punnett, H., Shimoya, K., Spotila, L., Tate, A., Williams, C. J.

Publikováno v: Scopus-Elsevier

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http://www.scopus.com/inward/record.url?eid=2-s2.0-19244364857&partnerID=MN8TOARS

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Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms.

Autor: Tromp G; Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107., Wu Y, Prockop DJ, Madhatheri SL, Kleinert C, Earley JJ, Zhuang J, Norrgård O, Darling RC, Abbott WM, et. al.

Publikováno v: The Journal of clinical investigation [J Clin Invest] 1993 Jun; Vol. 91 (6), pp. 2539-45.