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Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.

Brownstein, Catherine, Meghan Towne, Lovelace Luquette, David Harris, Nicholas Marinakis, Peter Meinecke, Kerstin Kutsche, et al. 2013. “Mutation of KCNJ8 in a Patient With Cantú Syndrome With Unique Vascular Abnormalities - Support for the Role of K(ATP) Channels in This Condition.”. Eur J Med Genet 56 (12): 678-82.

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.

Gupta, Vandana, Gianina Ravenscroft, Ranad Shaheen, Emily Todd, Lindsay Swanson, Masaaki Shiina, Kazuhiro Ogata, et al. 2013. “Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination As an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.”. Am J Hum Genet 93 (6): 1108-17.