Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia-Reference-Cited by-同舟云学术

Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia

Published:2011-01-09 Issue:5 Volume:129 Page:497-502
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Kim Su Jin,Bieganski Tadeusz,Sohn Young Bae,Kozlowski Kazimierz,Semënov Mikhail,Okamoto Nobuhiko,Kim Chi Hwa,Ko Ah-Ra,Ahn Geung Hwan,Choi Yoon-La,Park Sung Won,Ki Chang-Seok,Kim Ok-Hwa,Nishimura Gen,Unger Sheila,Superti-Furga Andrea,Jin Dong-Kyu

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-011-0947-3.pdf

Reference23 articles.

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2. Balemans W, Van Den Ende J, Freire Paes-Alves A, Dikkers FG, Willems PJ, Vanhoenacker F, de Almeida-Melo N, Alves CF, Stratakis CA, Hill SC, Van Hul W (1999) Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12–q21. Am J Hum Genet 64:1661–1669

3. Balemans W, Ebeling M, Patel N, Van Hul E, Olson P, Dioszegi M, Lacza C, Wuyts W, Van Den Ende J, Willems P, Paes-Alves AF, Hill S, Bueno M, Ramos FJ, Tacconi P, Dikkers FG, Stratakis C, Lindpaintner K, Vickery B, Foernzler D, Van Hul W (2001) Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST). Hum Mol Genet 10:537–543

4. Balemans W, Patel N, Ebeling M, Van Hul E, Wuyts W, Lacza C, Dioszegi M, Dikkers FG, Hildering P, Willems PJ, Verheij JB, Lindpaintner K, Vickery B, Foernzler D, Van Hul W (2002) Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease. J Med Genet 39:91–97

5. Beighton P, Barnard A, Hamersma H, van der Wouden A (1984) The syndromic status of sclerosteosis and van Buchem disease. Clin Genet 25:175–181

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