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PubMed (OMIM) for id: 340923

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Page 1
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, Zecic A, Mortier G, Gregory S, Sharony R, Kambouris M, Sakati N, Meyer BF, Al Aqeel AI, Al Humaidan AK, Al Zanhrani F, Al Swaid A, Al Othman J, Diaz GA, Weiner R, Khan KT, Gordon R, Gelb BD; HRD/Autosomal Recessive Kenny-Caffey Syndrome Consortium. Parvari R, et al. Nat Genet. 2002 Nov;32(3):448-52. doi: 10.1038/ng1012. Epub 2002 Oct 21. Nat Genet. 2002. PMID: 12389028
Pathway leading to correctly folded beta-tubulin.
Tian G, Huang Y, Rommelaere H, Vandekerckhove J, Ampe C, Cowan NJ. Tian G, et al. Cell. 1996 Jul 26;86(2):287-96. doi: 10.1016/s0092-8674(00)80100-2. Cell. 1996. PMID: 8706133 Free article.
Chaperonin-mediated folding of actin and tubulin.
Lewis SA, Tian G, Vainberg IE, Cowan NJ. Lewis SA, et al. J Cell Biol. 1996 Jan;132(1-2):1-4. doi: 10.1083/jcb.132.1.1. J Cell Biol. 1996. PMID: 8567715 Free PMC article. Review. No abstract available.
14 results