Boerkoel, Cornelius F <br/><br/>
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.  [electronic resource] 

 -  Nature genetics  Feb 2002 
 - 215-20 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>1061-4036 
<br/><br/><label>Standard No.: </label>10.1038/ng821  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Alleles<br/>Amino Acid Sequence<br/>Animals<br/>Base Sequence<br/>Child<br/>Child, Preschool<br/>Consanguinity<br/>Conserved Sequence<br/>DNA--genetics<br/>DNA Helicases--genetics<br/>DNA Mutational Analysis<br/>Female<br/>Genes, Recessive<br/>Humans<br/>Immunologic Deficiency Syndromes--genetics<br/>Male<br/>Molecular Sequence Data<br/>Mutation<br/>Mutation, Missense<br/>Osteochondrodysplasias--genetics<br/>Pedigree<br/>Phenotype<br/>Renal Insufficiency--genetics<br/>Sequence Homology, Amino Acid<br/>Species Specificity<br/>T-Lymphocytes--immunology