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Two distinct mutations in a single dystrophin gene: Chance occurrence or premutation?

✍ Scribed by Laing, N. G. ;Layton, M. G. ;Johnsen, R. D. ;Chandler, D. C. ;Mears, M. E. ;Goldblatt, J. ;Kakulas, B. A.

Book ID: 101443617
Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 495 KB
Volume: 42
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320420512

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✦ Synopsis

We report on a kindred segregating 2 distinct mutations of a dystrophin gene. DNA analysis showed that the second mutation, a deletion, arose in the same gene carrying the primary defect which produced a Becker phenotype in the affected males. The DNA data for this family are reported and the alternative explanations of chance occurrence and premutation are discussed to explain these unusual findings.

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