CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.

Noor, Abdul

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

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1537-6605

10.1016/j.ajhg.2008.01.021 doi


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