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Results: 1-2 |
Results: 2
Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1
Authors: Young, TL Ives, E Lynch, E Person, R Snook, S MacLaren, L Cator, T Griffin, A Fernandez, B Lee, MK King, MC
Citation: Tl. Young et al., Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1, HUM MOL GEN, 10(22), 2001, pp. 2509-2514
Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: Low risk of pregnancy complications and unexpected longevity in some affected relatives
Authors: Gilchrist, D Schwarze, U Shields, K MacLaren, L Bridge, PJ Byers, PH
Citation: D. Gilchrist et al., Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: Low risk of pregnancy complications and unexpected longevity in some affected relatives, AM J MED G, 82(4), 1999, pp. 305-311
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