A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux. [electronic resource]
Producer: 20180221Description: e0191224 p. digitalISSN:- 1932-6203
- Amino Acid Sequence
- Amino Acid Substitution
- Animals
- Animals, Newborn
- Biomarkers, Tumor -- chemistry
- Calcium-Binding Proteins
- Child
- Consanguinity
- Conserved Sequence
- Exons
- Extracellular Matrix Proteins -- genetics
- Fraser Syndrome -- genetics
- Gene Expression Regulation, Developmental
- Homozygote
- Humans
- Male
- Mice
- Models, Animal
- Models, Molecular
- Mutation, Missense
- Pedigree
- Sequence Homology, Amino Acid
- Urogenital Abnormalities -- genetics
- Urogenital System -- growth & development
- Vesico-Ureteral Reflux -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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