Intragenic telSMN mutations: Frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number

D. W. Parsons, P. E. McAndrew, S. T. Iannaccone, J. R. Mendell, A. H.M. Burghes, Thomas W. Prior

Research output: Contribution to journal › Article › peer-review

159 Scopus citations

Fingerprint

Dive into the research topics of 'Intragenic telSMN mutations: Frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number'. Together they form a unique fingerprint.

Medicine & Life Sciences