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2013/05/27

Journal of Human Genetics - Table of Contents alert Volume 58 Issue 5

TABLE OF CONTENTS

Volume 58, Issue 5 (May 2013)

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Original Articles

Top

DNA methylation of human endogenous retrovirus in systemic lupus erythematosus

Jeerawat Nakkuntod, Pattadon Sukkapan, Yingyos Avihingsanon, Apiwat Mutirangura and Nattiya Hirankarn

J Hum Genet 2013 58: 241-249; advance online publication, March 7, 2013; 10.1038/jhg.2013.6

Abstract | Full Text

Copy number variation of the antimicrobial-gene, defensin beta 4, is associated with susceptibility to cervical cancer

Shuhei Abe, Kiyonori Miura, Akira Kinoshita, Hiroyuki Mishima, Shoko Miura, Kentaro Yamasaki, Yuri Hasegawa, Ai Higashijima, Ozora Jo, Kensaku Sasaki, Atsushi Yoshida, Koh-ichiro Yoshiura and Hideaki Masuzaki

J Hum Genet 2013 58: 250-253; advance online publication, March 7, 2013; 10.1038/jhg.2013.7

Abstract | Full Text

A founder haplotype of APOE-Sendai mutation associated with lipoprotein glomerulopathy

Kentaro Toyota, Taeko Hashimoto, Daisuke Ogino, Akira Matsunaga, Minoru Ito, Ikuto Masakane, Noriyuki Degawa, Hiroshi Sato, Sayuri Shirai, Kazuo Umetsu, Gen Tamiya, Takao Saito and Kiyoshi Hayasaka

J Hum Genet 2013 58: 254-258; advance online publication, February 14, 2013; 10.1038/jhg.2013.8

Abstract | Full Text

Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure

Rumiko Izumi, Tetsuya Niihori, Yoko Aoki, Naoki Suzuki, Masaaki Kato, Hitoshi Warita, Toshiaki Takahashi, Maki Tateyama, Takeshi Nagashima, Ryo Funayama, Koji Abe, Keiko Nakayama, Masashi Aoki and Yoichi Matsubara

J Hum Genet 2013 58: 259-266; advance online publication, February 28, 2013; 10.1038/jhg.2013.9

Abstract | Full Text

Functional characterization of seven single-nucleotide polymorphisms of the steroid sulfatase gene found in a Japanese population

Jun Matsumoto, Noritaka Ariyoshi, Itsuko Ishii and Mitsukazu Kitada

J Hum Genet 2013 58: 267-272; advance online publication, March 7, 2013; 10.1038/jhg.2013.12

Abstract | Full Text

Molecular analysis of the genes causing recessive demyelinating Charcot–Marie–Tooth disease in Japan

Makiko Hayashi, Akiko Abe, Tatsufumi Murakami, Satoshi Yamao, Hidee Arai, Hideji Hattori, Mizue Iai, Kyoko Watanabe, Nobuyuki Oka, Keiji Chida, Yumiko Kishikawa and Kiyoshi Hayasaka

J Hum Genet 2013 58: 273-278; advance online publication, March 7, 2013; 10.1038/jhg.2013.15

Abstract | Full Text

Molecular epidemiology and genotype–phenotype correlation in phenylketonuria patients from South Spain

María A Bueno, Domingo González-Lamuño, Carmen Delgado-Pecellín, Luís Aldámiz-Echevarría, Belén Pérez, Lourdes R Desviat and María L Couce

J Hum Genet 2013 58: 279-284; advance online publication, March 21, 2013; 10.1038/jhg.2013.16

Abstract | Full Text

Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes

Jun Kido, Kimitoshi Nakamura, Shirou Matsumoto, Hiroshi Mitsubuchi, Toshihiro Ohura, Yosuke Shigematsu, Tohru Yorifuji, Mureo Kasahara, Reiko Horikawa and Fumio Endo

J Hum Genet 2013 58: 285-292; advance online publication, March 14, 2013; 10.1038/jhg.2013.17

Abstract | Full Text

Genetic effects have a dominant role on poor responses to infant vaccination to hepatitis B virus

Kai Yan, Wenping Cai, Fang Cao, He Sun, Shaoke Chen, Ruiwei Xu, Xin Wei, Xiaoxiang Shi and Weili Yan

J Hum Genet 2013 58: 293-297; advance online publication, March 14, 2013; 10.1038/jhg.2013.18

Abstract | Full Text

Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis

Mi-Ae Jang, Su-Young Kim, Byeong-Ho Jeong, Hye Yun Park, Kyeongman Jeon, Jong-Won Kim, Chang-Seok Ki and Won-Jung Koh

J Hum Genet 2013 58: 298-303; advance online publication, March 21, 2013; 10.1038/jhg.2013.19

Abstract | Full Text

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