NBAS disease: 14 new patients, a recurrent mutation, and genotype-phenotype correlation among 24 Chinese patients.

Zhong-Die Li Kuerbanjiang Abuduxikuer Jing ZhangYe YangYi-Ling QiuYuge HuangXin-Bao XieYi Lu Jian-She Wang

Published in: Hepatology research : the official journal of the Japan Society of Hepatology (2020)

We reported 14 new patients, 10 novel mutations, and a unique recurrent mutation. Correlation analysis indicated that the domain of missense and non-frameshift insertion/deletion mutations in NBAS protein is related to phenotype among Chinese patients.

Keyphrases

end stage renal disease
ejection fraction
chronic kidney disease
peritoneal dialysis
prognostic factors
patient reported