Presentation Information
[O9-2]Whole-exome sequencing identified novel pathogenic variants in APOB, confirming compound heterozygous FHBL1
○Satoru Takase1,2, Hiroyuki Ishiura3, Yuugo Takaki4, Madoka Sawatari4, Nagisa Komatsu4, Masaki Tanaka1, Mikio Takanashi1, Youko Iizuka1, Sachiko Okazaki1, Hiroaki Okazaki1 (1.Department of Diabetes and Metabolic Diseases, The University of Tokyo Hospital, Tokyo, Japan, 2.The Institute of Medical Science, Asahi Life Foundation, Tokyo, Japan, 3.Department of Neurology, The University Of Tokyo Hospital, Tokyo, Japan, 4.Department of Pediatrics, Kumamoto Red Cross Hospital, Kumamoto, Japan)