Zobrazeno 1 - 2
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pro vyhledávání: '"K E, Kruckeberg"'
Autor:
D J, Brandhagen, V F, Fairbanks, W P, Baldus, C I, Smith, K E, Kruckeberg, D J, Schaid, S N, Thibodeau
Publikováno v:
American Journal of Gastroenterology. 95:2910-2914
The HFE gene contains two mutant alleles; C282Y and H63D. The C282Y mutation occurs in 55-100% of patients with hereditary hemochromatosis. The aim of our study was to re-examine the frequencies of the C282Y and H63D mutations in patients with mild a
Autor:
Julie M. Cunningham, Scott J. Hebbring, Christopher J. Klein, Yanhong Wu, K. E. Kruckeberg, Peter J. Dyck, Stephen N. Thibodeau, Diane M. Klein, Sarah A. Anderson
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry. 76(7)
Background: The variable clinical features of hereditary sensory and autonomic neuropathy (HSAN I) suggest heterogeneity. Some cases of idiopathic sensory neuropathy could be caused by missense mutations of SPTLC1 and RAB7 and not be recognised as fa