Lund, Am <br/><br/>
A novel arginine-to-cysteine substitution in the triple helical region of the alpha1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers-Danlos phenotype.  [electronic resource] 

 -  Clinical genetics  Jan 2008 
 - 97-101 p.  digital 
<br/><br/> Publication Type: Case Reports; Letter 
<br/><br/><label>ISSN: </label>1399-0004 
<br/><br/><label>Standard No.: </label>10.1111/j.1399-0004.2007.00926.x  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child, Preschool<br/>Collagen Type I--chemistry<br/>Collagen Type I, alpha 1 Chain<br/>Ehlers-Danlos Syndrome--genetics<br/>Family<br/>Humans<br/>Male<br/>Mutation, Missense<br/>Osteogenesis Imperfecta--genetics<br/>Protein Structure, Secondary