Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations inATP2A2andPAX6-Reference-Cited by-同舟云学术

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Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations inATP2A2andPAX6

Published:2009-07-16 Issue:8 Volume:149A Page:1768-1772
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Castori Marco,Barboni Luana,Duncan Philippa J.,Paradisi Mauro,Laino Luigi,De Bernardo Carmelilia,Robinson David O.,Grammatico Paola

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32960/fullpdf

Reference18 articles.

1. Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome;Bahuau;Am J Med Genet,1998

2. Human platelet Ca2+-ATPases: New markers of cell differentiation as illustrated in idiopathic scoliosis;Bredoux;Platelets,2006

3. Darier-White disease: A review of the clinical features in 163 patients;Burge;J Am Acad Dermatol,1992

4. The prevalence of bone cysts in Darier's disease: A survey of 31 cases;Crisp;Clin Exp Dermatol,1984

5. Dissection of the functional differences between sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA) 1 and 2 isoforms and characterization of Darier disease (SERCA2) mutants by steady-state and transient kinetic analyses;Dode;J Biol Chem,2003

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