Publication
| Nakabayashi K, Amann D, Ren Y, Saarialho-Kere U, Avidan N, Gentles S, MacDonald JR, Puffenberger EG, Christiano AM, Martinez-Mir A, Salas-Alanis JC, Rizzo R, Vamos E, Raams A, Les C, Seboun E, Jaspers NG, Beckmann JS, Jackson CE, Scherer SW, Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy American journal of human genetics76:510-6 2004 |
| PubMed ID: 15645389 |
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| Records Return:
(3)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM06333 | Female | 9 MO | 954 | sister | TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1 | GM |
| GM06332 | Female | 4 YR | 954 | sister | TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1 | GM |
| GM06331 | Male | 16 YR | 954 | proband | TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1 | GM |
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