Recessive CLCN1 mutation presenting as Thomsen disease

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Judy Thomas1, Jack Tarleton2, Steven K Baker1

  • 1Department of Medicine, Physical Medicine & Neurology, Neuromuscular Disease Clinic, Rm 2H22, McMaster University Medical Centre, McMaster University, Hamilton, Ontario, L8N 3Z5, Canada.

Muscle & Nerve
|September 26, 2008
PubMed

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