CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. [electronic resource]
Producer: 20080513Description: 1011-8 p. digitalISSN:- 1537-6605
- Adolescent
- Adult
- Amino Acid Sequence
- Animals
- Calcium -- metabolism
- Child, Preschool
- Chromosome Mapping
- Chromosomes, Human, Pair 4 -- genetics
- Consanguinity
- Cytoskeletal Proteins
- Exons -- genetics
- Female
- Frameshift Mutation
- Haplotypes
- Homozygote
- Humans
- Intellectual Disability -- genetics
- Lod Score
- Male
- Molecular Sequence Data
- Oligonucleotide Array Sequence Analysis
- Pakistan
- Pedigree
- Protein Structure, Tertiary -- genetics
- Proteins -- genetics
- RNA Splicing -- genetics
- Retinitis Pigmentosa -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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