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A point mutation at ATP-binding region of the ALD gene in a family with X-linked adrenoleukodystrophy

✍ Scribed by Tadashi Matsumoto; Tatsuro Kondoh; Hideaki Masuzaki; Naoki Harada; Tetsuo Matsusaka; Ei-ichi Kinoshita; Goh Takeo; Mitsuhiro Tsujihata; Yasuyuki Suzuki; Yoshiro Tsuji


Publisher
Nature Publishing Group
Year
1994
Tongue
English
Weight
432 KB
Volume
39
Category
Article
ISSN
1435-232X

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Identification of a nonsense mutation in
✍ Michael J. Aldred; Peter J. M. Crawford; Enriqueta Roberts; Nicholas S. T. Thoma πŸ“‚ Article πŸ“… 1992 πŸ› Springer 🌐 English βš– 625 KB

A family with X-linked amelogenesis imperfecta (XAI) is described in which the disease is associated with a nonsense mutation in exon 5 of the amelogenin gene. This mutation involves a single base deletion (CCCC-->CCC) in the exon in an affected male, his sister and his mother. The effect of this de