Phenotypes of SMA patients retaining SMN1 with intragenic mutation
Yogik Onky Silvana Wijaya, Mawaddah Ar Rohmah, Emma Tabe Eko Niba, Naoya Morisada, Yoriko Noguchi, Yasufumi Hidaka, Shiro Ozasa, Takeshi Inoue, Tomoyuki Shimazu, Yuya Takahashi, Takenori Tozawa, Tomohiro Chiyonobu, Takushi Inoue, Tomoyoshi Shiroshita, Atsushi Yokoyama, Kentaro Okamoto, Hiroyuki Awano, Yasuhiro Takeshima, Toshio Saito, Kayoko Saito, Hisahide Nishio, Masakazu Shinohara
Topics & Concepts
SMN1ExonSpinal muscular atrophyBiologyMultiplex ligation-dependent probe amplificationGeneticsFrameshift mutationMutationNonsense mutationMolecular biologySMA*PhenotypeGeneMissense mutationCompound heterozygosityCombinatoricsMathematicsNeurogenetic and Muscular Disorders ResearchCardiomyopathy and Myosin StudiesMuscle Physiology and Disorders