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Familial adenomatous polyposis in two Black South African families

Autor: Grobbelaar, J J, Wilken, E, de Ravel, T J L, Nicholson, D L, Kotze, M J

The apparent low incidence of colon cancer in the Black population of South Africa has been ascribed to a non-Western diet. The present authors report the identification of two common 5-bp deletions at codons 1309 and 1061 of the adenomatous polyposi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3848::96a2c373ee1c6d3ea3ad0312627d2015
https://hdl.handle.net/20.500.14017/2554384c-2b15-4965-85f7-921b7446df78

Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndrome.

Autor: Lei, Zhi¹ (AUTHOR), Song, Xiaorui¹ (AUTHOR), Zheng, Xuan¹ (AUTHOR), Wang, Yanhong¹ (AUTHOR), Wang, Yingyuan² (AUTHOR), Wu, Zhirong³ (AUTHOR), Fan, Tian² (AUTHOR), Dong, Shijie⁴ (AUTHOR), Cao, Honghui⁵ (AUTHOR), Zhao, Yuefang⁶ (AUTHOR), Xia, Zhiyi¹ (AUTHOR), Gao, Liujiong⁷ (AUTHOR), Shang, Qing³ (AUTHOR), Mei, Shiyue¹ (AUTHOR) xiaomay2008@163.com

Publikováno v: Molecular Genetics & Genomic Medicine. May2024, Vol. 12 Issue 5, p1-13. 13p.

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Idiopathic multicentric osteolysis presents early and is not linked to chromosome 18q21.1.

Autor: DE RAVEL, T. J. L., MATTHIJS, G., HOLVOET, M., WOUTERS, C., LEGIUS, E., FRYNS, J. P.

Publikováno v: Journal of Medical Genetics; Nov2000, p1-3, 3p, 3 Black and White Photographs, 1 Diagram, 1 Chart