Zobrazeno 1 - 2
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pro vyhledávání: '"Leslie G. Biesecker"'
Autor:
Katie L. Lewis, Joshua D. Milner, Nina Jones, Jonathan J. Lyons, Michael A. Colicos, Thomas DiMaggio, Heejong Sung, Kelly D. Stone, Jack Chovanec, Leslie G. Biesecker, Celeste Nelson, Stephanie C. Stotz, Yihui Liu
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 20(5)
PurposeCaV3.2 signaling contributes to nociception, pruritus, gastrointestinal motility, anxiety, and blood pressure homeostasis. This calcium channel, encoded by CACNA1H, overlaps the human tryptase locus, wherein increased TPSAB1 copy number causes
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
McArdle disease is one of the most common glycogen storage disorders. Although the exact prevalence is not known, it has been estimated to be 1 in 100,000 patients in the United States. More than 100 mutations in PYGM have been associated with this d