Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia-Reference-Cited by-同舟云学术

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia

Published:2002-01-22 Issue:2 Volume:30 Page:215-220
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Boerkoel Cornelius F.,Takashima Hiroshi,John Joy,Yan Jiong,Stankiewicz Pawel,Rosenbarker Lisa,André Jean-Luc,Bogdanovic Radovan,Burguet Antoine,Cockfield Sandra,Cordeiro Isabel,Fründ Stefan,Illies Friederike,Joseph Mark,Kaitila Ilkka,Lama Giuliana,Loirat Chantal,McLeod D. Ross,Milford David V.,Petty Elizabeth M.,Rodrigo Francisco,Saraiva Jorge M.,Schmidt Beate,Smith Graham C.,Spranger Jürgen,Stein Anja,Thiele Hannelore,Tizard Jane,Weksberg Rosanna,Lupski James R.,Stockton David W.

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng821z.pdf

Reference25 articles.

1. Boerkoel, C.F. et al. Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Eur. J. Pediatr. 159, 1–7 (2000).

2. Spranger, J. et al. Schimke immuno-osseous dysplasia: a newly recognized multisystem disease. J. Pediatr. 119, 64–72 (1991).

3. Schimke, R.N., Horton, W.A. & King, C.R. Chondroitin-6-sulfaturia, defective cellular immunity, and nephrotic syndrome. Lancet 2, 1088–1089 (1971).

4. Saraiva, J.M. et al. Schimke immuno-osseous dysplasia: case report and review of 25 patients. J. Med. Genet. 36, 786–789 (1999).

5. Coleman, M.A., Eisen, J.A. & Mohrenweiser, H.W. Cloning and characterization of HARP/SMARCAL1: a prokaryotic HepA-related SNF2 helicase protein from human and mouse. Genomics 65, 274–282 (2000).

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