Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing

por Park, Hyung Jun, Choi, Young-Chul, Kim, Seung Min, Kim, Se Hoon, Hong, Young Bin, Yoon, Bo Ram, Chung, Ki Wha, Choi, Byung-Ok
Publicado 2015

A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease

por Hong, Young Bin, Lee, Ja Hyun, Park, Jin-Mo, Choi, Yu-Ri, Hyun, Young Se, Yoon, Bo Ram, Yoo, Jeong Hyun, Koo, Heasoo, Jung, Sung-Chul, Chung, Ki Wha, Choi, Byung-Ok
Publicado 2013

Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease

por Kim, Hyeon Jin, Hong, Young Bin, Park, Jin-Mo, Choi, Yu-Ri, Kim, Ye Jin, Yoon, Bo Ram, Koo, Heasoo, Yoo, Jeong Hyun, Kim, Sang Beom, Park, Minhwa, Chung, Ki Wha, Choi, Byung-Ok
Publicado 2013

Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy

por Park, Mi-Hyun, Woo, Hae-Mi, Hong, Young Bin, Park, Ji Hoon, Yoon, Bo Ram, Park, Jin-Mo, Yoo, Jeong Hyun, Koo, Heasoo, Chae, Jong-Hee, Chung, Ki Wha, Choi, Byung-Ok, Koo, Soo Kyung
Publicado 2014