Description:
ROTHMUND-THOMSON SYNDROME; RTS
NIA AGING CELL REPOSITORY DNA PANEL - AGING SYNDROMES
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Repository
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No Data
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| Subcollection |
Heritable Diseases |
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License Required
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No Data
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Sample Source
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Subject Type
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Family Type
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No Data
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Ethnicity
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No Data
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Family Member
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Genetic Data
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No Data
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| Passage Frozen |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM, Furuichi Y, Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet22:82-4 1999 |
| PubMed ID: 10319867 |
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