Noor, Abdul <br/><br/>
CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.  [electronic resource] 

 -  American journal of human genetics  Apr 2008 
 - 1011-8 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2008.01.021  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Amino Acid Sequence<br/>Animals<br/>Calcium--metabolism<br/>Child, Preschool<br/>Chromosome Mapping<br/>Chromosomes, Human, Pair 4--genetics<br/>Consanguinity<br/>Cytoskeletal Proteins<br/>Exons--genetics<br/>Female<br/>Frameshift Mutation<br/>Haplotypes<br/>Homozygote<br/>Humans<br/>Intellectual Disability--genetics<br/>Lod Score<br/>Male<br/>Molecular Sequence Data<br/>Oligonucleotide Array Sequence Analysis<br/>Pakistan<br/>Pedigree<br/>Protein Structure, Tertiary--genetics<br/>Proteins--genetics<br/>RNA Splicing--genetics<br/>Retinitis Pigmentosa--genetics