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Filtering by: Committee Member Chiaramello, Anne Author Punetha, Jaya Keyword Genetics Type of Work Thesis or Dissertation

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Investigating Genetic Mechanisms Underlying Clinical Heterogeneity in Neuromuscular Diseases

Description:

Neuromuscular disorders show broad variation in clinical symptoms, and much of this variability can be explained by genetic and allelic heterogeneity, presence of genetic modifiers, and/or mosaicism. The goal of this dissertation research was to provide experimental evidence for different genetic...

Author:

Punetha, Jaya

Keyword:

Duchenne Muscular dystrophy, Genetics, mosaicism, Nextgen sequencing, genetic modifiers, and Neuromuscular diseases

GW Unit:

Biomedical Sciences

Degree:

Ph.D.

Advisor:

Hoffman, Eric P

Committee Member(s):

Bönnemann, Carsten G and Chiaramello, Anne

Resource Type:

Thesis or Dissertation