Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy. [electronic resource]
Producer: 20110504Description: 131-7 p. digitalISSN:- 1476-5438
- AC133 Antigen
- Abortion, Spontaneous -- genetics
- Adult
- Aged
- Antigens, CD -- genetics
- Cognition
- Empty Sella Syndrome -- diagnostic imaging
- Endothelial Cells -- pathology
- Family
- Female
- Genes, Dominant
- Glycoproteins -- genetics
- Hematuria -- genetics
- Hippocampus -- diagnostic imaging
- Humans
- Kidney Diseases -- genetics
- Macular Degeneration -- genetics
- Magnetic Resonance Imaging
- Mutation, Missense
- Peptides -- genetics
- Phenotype
- Radiography
- Young Adult
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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