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Journal of Human Genetics

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Volume 63, Issue 6

In this issue
Brief Communication
Also new


Unfolded protein response is activated in Krabbe disease in a manner dependent on the mutation type

Kaori Irahara-Miyana, Takanobu Otomo, Hidehito Kondo, Mohammad Arif Hossain, Keiichi Ozono et al.

Journal of Human Genetics 2018 63 :699 - 706; April 03, 2018; 10.1038/s10038-018-0445-8


Abstract | Full Text

QIL1-dependent assembly of MICOS complex–lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation

J. G√∂diker, M. Gr√ľneberg, I. DuChesne, J. Reunert, S. Rust et al.

Journal of Human Genetics 2018 63 :707 - 716; April 04, 2018; 10.1038/s10038-018-0442-y


Abstract | Full Text

High-risk screening for Gaucher disease in patients with neurological symptoms

Ken Momosaki, Jun Kido, Shirou Matsumoto, Shinichiro Yoshida, Atsuko Takei et al.

Journal of Human Genetics 2018 63 :717 - 721; March 30, 2018; 10.1038/s10038-018-0438-7


Abstract | Full Text

A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family

Yuyuan Deng, Zhijie Niu, LiangLiang Fan, Jie Ling, Hongsheng Chen et al.

Journal of Human Genetics 2018 63 :723 - 730; March 20, 2018; 10.1038/s10038-018-0443-x


Abstract | Full Text

Common variant rs11191548 near the CYP17A1 gene is associated with hypertension and the serum 25(OH) D levels in Han Chinese

Ning Zhang, Jian Jia, Qiuju Ding, Huimei Chen, Xiaoman Ye et al.

Journal of Human Genetics 2018 63 :731 - 737; March 19, 2018; 10.1038/s10038-018-0435-x


Abstract | Full Text

Association of a single nucleotide polymorphism in TNIP1 with type-1 autoimmune hepatitis in the Japanese population

Shomi Oka, Takashi Higuchi, Hiroshi Furukawa, Minoru Nakamura, Atsumasa Komori et al.

Journal of Human Genetics 2018 63 :739 - 744; March 20, 2018; 10.1038/s10038-018-0440-0


Abstract | Full Text

Brief Communication

Survey on the perception of germline genome editing among the general public in Japan

Masato Uchiyama, Akiko Nagai & Kaori Muto

Journal of Human Genetics 2018 63 :745 - 748; March 15, 2018; 10.1038/s10038-018-0430-2


Abstract | Full Text

A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy

Sato Suzuki-Muromoto, Keisuke Wakusawa, Takuya Miyabayashi, Ryo Sato, Yukimune Okubo et al.

Journal of Human Genetics 2018 63 :749 - 753; March 19, 2018; 10.1038/s10038-018-0432-0


Abstract | Full Text

Functional splicing analysis in an infantile case of atypical hemolytic uremic syndrome caused by digenic mutations in C3 and MCP genes

Tomohiko Yamamura, Kandai Nozu, Hiroaki Ueda, Rika Fujimaru, Ryutaro Hisatomi et al.

Journal of Human Genetics 2018 63 :755 - 759; March 19, 2018; 10.1038/s10038-018-0436-9


Abstract | Full Text

Clinical and molecular consequences of exon 78 deletion in DMD gene

Monica Traverso, Stefania Assereto, Serena Baratto, Michele Iacomino, Marina Pedemonte et al.

Journal of Human Genetics 2018 63 :761 - 764; March 19, 2018; 10.1038/s10038-018-0439-6


Abstract | Full Text

A genome-wide association study on photic sneeze syndrome in a Japanese population

Daimei Sasayama, Shinya Asano, Shun Nogawa, Shoko Takahashi, Kenji Saito et al.

Journal of Human Genetics 2018 63 :765 - 768; March 20, 2018; 10.1038/s10038-018-0441-z


Abstract | Full Text

Dysosteosclerosis is also caused by TNFRSF11A mutation

Long Guo, Nursel H. Elcioglu, Ozge K. Karalar, Mert O. Topkar, Zheng Wang et al.

Journal of Human Genetics 2018 63 :769 - 774; March 22, 2018; 10.1038/s10038-018-0447-6


Abstract | Full Text


The uncertainty of population relationship and divergence time inferred by the multiple sequentially Markovian coalescent model

Xing-Yan Yang, Shan-Shan Dai, He-Qun Liu, Min-Sheng Peng & Ya-Ping Zhang

Journal of Human Genetics 2018 63 :775 - 777; March 16, 2018; 10.1038/s10038-018-0424-0


Abstract | Full Text

Are CSNK2A1 gene mutations associated with retinal dystrophy? Report of a patient carrier of a novel de novo splice site mutation

Davide Colavito, Elda Del Giudice, Chiara Ceccato, Maurizio Dalle Carbonare, Alberta Leon et al.

Journal of Human Genetics 2018 63 :779 - 781; March 22, 2018; 10.1038/s10038-018-0434-y


Abstract | Full Text

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