Publication
Knight SW, Heiss NS, Vulliamy TJ, Greschner S, Stavrides G, Pai GS,
Lestringant G, Varma N, Mason PJ, Dokal I, Poustka A, X-linked dyskeratosis congenita is predominantly caused by missense mutations in
the DKC1 gene. Am J Hum Genet65(1):50-8 1999 |
PubMed ID: 10364516 |
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Records Return:
(4)
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Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
GM03650 | Female | 47 YR | 515 | mother | DYSKERATOSIS CONGENITA, X-LINKED; DKC | GM |
GM03195 | Male | 19 YR | 515 | brother | DYSKERATOSIS CONGENITA, X-LINKED; DKC | GM |
GM03194 | Male | 18 YR | 515 | brother | DYSKERATOSIS CONGENITA, X-LINKED; DKC | GM |
GM03193 | Male | 15 YR | 515 | proband | DYSKERATOSIS CONGENITA, X-LINKED; DKC | GM |
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