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13.

Two recurrent mutations are associated with GNE myopathy in the North of Britain
by Chaouch, Amina

Journal of neurology, neurosurgery and psychiatry, 2014, Vol.85 (12), p.1359-1365

15.

Sex Hormone Binding Globulin Deficiency Due to a Homozygous Missense Mutation
by Vos, M. J

The journal of clinical endocrinology and metabolism, 2014, Vol.99 (9), p.E1798-E1802

20.

CBG Santiago: A Novel CBG Mutation
by Torpy, D. J

The journal of clinical endocrinology and metabolism, 2012, Vol.97 (1), p.E151-E155

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