Grosch, Melanie <br/><br/>
Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype.  [electronic resource] 

 -  Matrix biology : journal of the International Society for Matrix Biology   
 - 387-92 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1569-1802 
<br/><br/><label>Standard No.: </label>10.1016/j.matbio.2013.05.001  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Base Sequence<br/>Chromosome Mapping<br/>Cytoskeletal Proteins--genetics<br/>DNA Polymerase II--genetics<br/>Gene Components<br/>Humans<br/>Joint Instability--genetics<br/>Molecular Sequence Data<br/>Mutation, Missense--genetics<br/>Nuclear Proteins--genetics<br/>Osteochondrodysplasias--genetics<br/>Pedigree<br/>Polymorphism, Single Nucleotide--genetics<br/>Protein Isoforms--genetics<br/>Sequence Alignment<br/>Sequence Analysis, DNA