Grochowski, Christopher M <br/><br/>
Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome.  [electronic resource] 

 -  American journal of medical genetics. Part A  Apr 2015 
 - 891-3 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.36946  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adenosine Triphosphatases--genetics<br/>Alagille Syndrome--diagnosis<br/>Base Sequence<br/>Calcium-Binding Proteins--genetics<br/>Child<br/>DNA Mutational Analysis<br/>Exome<br/>Female<br/>Heterozygote<br/>Humans<br/>Intercellular Signaling Peptides and Proteins--genetics<br/>Jagged-1 Protein<br/>Male<br/>Membrane Proteins--genetics<br/>Pedigree<br/>Receptor, Notch2--genetics<br/>Serrate-Jagged Proteins