Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [electronic resource]
Producer: 20091222Description: 558-68 p. digitalISSN:- 1537-6605
- ADAM Proteins -- genetics
- ADAMTS Proteins
- Case-Control Studies
- DNA -- genetics
- Dwarfism -- genetics
- Ectopia Lentis -- genetics
- Female
- Gene Expression
- Genes, Recessive
- Genetic Linkage
- Glaucoma -- genetics
- Homozygote
- Humans
- Immunohistochemistry
- Male
- Mutation
- Mutation, Missense
- Myopia -- genetics
- Nuclear Family
- Pedigree
- Protein Isoforms -- genetics
- Sequence Analysis, DNA
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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