Mutations in the RNA granule component TDRD7 cause cataract and glaucoma.

Lachke SA, Alkuraya FS, Kneeland SC, Ohn T, Aboukhalil A, Howell GR, Saadi I, Cavallesco R, Yue Y, Tsai AC, Nair KS, Cosma MI, Smith RS, Hodges E, Alfadhli SM, Al-Hajeri A, Shamseldin HE, Behbehani A, Hannon GJ, Bulyk ML, Drack AV, Anderson PJ, John SW, Maas RL
Science. 2011 331 (6024): 1571-6

PMID: 21436445 · PMCID: PMC3279122 · DOI:10.1126/science.1195970

MeSH Terms (23)

Animals Cataract Cell Line Chick Embryo Crystallins Cytoplasmic Granules Embryonic Development Female Gene Expression Regulation, Developmental Gene Knockdown Techniques Glaucoma Humans Hypospadias Lens, Crystalline Male Mice Mutation Organogenesis Protein Biosynthesis Ribonucleoproteins RNA, Messenger RNA-Binding Proteins Spermatogenesis

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