Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome. [electronic resource]
Producer: 20000106Description: 369-76 p. digitalISSN:- 1059-7794
- Abnormalities, Multiple -- genetics
- Adult
- Amino Acid Sequence
- Animals
- Arnold-Chiari Malformation -- genetics
- Base Sequence
- Child, Preschool
- Coloboma -- genetics
- DNA Primers -- genetics
- DNA-Binding Proteins -- genetics
- Female
- Genes, Dominant
- Humans
- Kidney -- abnormalities
- Male
- Mice
- Mutation
- Mutation, Missense
- PAX2 Transcription Factor
- Pedigree
- Phenotype
- Syndrome
- Transcription Factors -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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