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Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome.
Mailman MD, Hemingway T, Darsey RL, Glasure CE, Huang Y, Chadwick RB, Heinz JW, Papp AC, Snyder PJ, Sedra MS, Schafer RW, Abuelo DN, Reich EW, Theil KS, Burghes AH, de la Chapelle A, Prior TW. Mailman MD, et al. Among authors: papp ac. Hum Genet. 2001 Feb;108(2):109-15. doi: 10.1007/s004390000446. Hum Genet. 2001. PMID: 11281448
Spectrum of small mutations in the dystrophin coding region.
Prior TW, Bartolo C, Pearl DK, Papp AC, Snyder PJ, Sedra MS, Burghes AH, Mendell JR. Prior TW, et al. Among authors: papp ac. Am J Hum Genet. 1995 Jul;57(1):22-33. Am J Hum Genet. 1995. PMID: 7611292 Free PMC article.
A novel splice site mutation in a Becker muscular dystrophy patient.
Bartolo C, Papp AC, Snyder PJ, Sedra MS, Burghes AH, Hall CD, Mendell JR, Prior TW. Bartolo C, et al. Among authors: papp ac. J Med Genet. 1996 Apr;33(4):324-7. doi: 10.1136/jmg.33.4.324. J Med Genet. 1996. PMID: 8730289 Free PMC article.
88 results