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One or more keywords matched the following properties of CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.

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has minor subject area list Adolescent; Adult; Amino Acid Sequence; Animals; Calcium; Child, Preschool; Chromosome Mapping; Consanguinity; Exons; Female; Haplotypes; Homozygote; Humans; Lod Score; Male; Molecular Sequence Data; Oligonucleotide Array Sequence Analysis; Pakistan; Pedigree; Protein Structure, Tertiary
information resource reference Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M, Irfan M, Siddiqui ZK, Naeem F, Paterson AD, Lutfullah M, Vincent JB, Ayub M. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. Am J Hum Genet. 2008 Apr; 82(4):1011-8.
label CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.

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  • Protein Structure Tertiary