Muller, Jean <br/><br/>
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.  [electronic resource] 

 -  Human genetics  Mar 2010 
 - 583-93 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1432-1203 
<br/><br/><label>Standard No.: </label>10.1007/s00439-010-0804-9  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Aged<br/>Bardet-Biedl Syndrome--diagnosis<br/>Chromatography, High Pressure Liquid<br/>Chromosome Mapping<br/>Decision Trees<br/>Female<br/>Gene Deletion<br/>Gene Duplication<br/>Gene Frequency<br/>Genetic Testing<br/>Homozygote<br/>Humans<br/>Male<br/>Microsatellite Repeats<br/>Middle Aged<br/>Molecular Sequence Data<br/>Mutation<br/>Pedigree<br/>Polymorphism, Single Nucleotide<br/>Polymorphism, Single-Stranded Conformational<br/>Sequence Analysis, DNA