Publication
| Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A, Dokal I, X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions Nat Genet19:32-8 1998 |
| PubMed ID: 9590285 |
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| Records Return:
(1)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM01774 | Male | 7 YR | 99 | proband | DYSKERATOSIS CONGENITA, X-LINKED; DKC | GM |
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