Vissers, Lisenka E L M <br/><br/>
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.  [electronic resource] 

 -  European journal of human genetics : EJHG  Mar 2015 
 - 317-24 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/ejhg.2014.115  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Substitution<br/>Animals<br/>DNA Mutational Analysis<br/>Exome<br/>Facies<br/>Female<br/>Gene Expression<br/>Germ-Line Mutation<br/>Heterozygote<br/>High-Throughput Nucleotide Sequencing<br/>Humans<br/>Male<br/>Models, Molecular<br/>Mutation<br/>Noonan Syndrome--genetics<br/>Pedigree<br/>Phenotype<br/>Protein Conformation<br/>Zebrafish<br/>alpha-Macroglobulins--chemistry