Volume 59; Issue 3

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Journal of Human Genetics
Volume 59; Issue 3

Journal of Human Genetics

Volume 59; Issue 3

1

Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah

Teh, Lai Kuan, George, Elizabeth, Lai, Mei I, Tan, Jin Ai Mary Anne, Wong, Lily, Ismail, Patimah

Journal:

Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 255 KB

english, 2014

2

Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses

Ishiura, Hiroyuki, Takahashi, Yuji, Hayashi, Toshihiro, Saito, Kayoko, Furuya, Hirokazu, Watanabe, Mitsunori, Murata, Miho, Suzuki, Mikiya, Sugiura, Akira, Sawai, Setsu, Shibuya, Kazumoto, Ueda, Naohi

Journal:

Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 2.46 MB

english, 2014

3

The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population

Liang, Ying, Huang, Miao-Zeng, Cheng, Cheng-Yi, Chao, Hung-Kun, Fwu, Victor Tramjay, Chiang, Szu-Hui, Hsiao, Kwang-Jen, Niu, Dau-Ming, Su, Tsung-Sheng

Journal:

Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 635 KB

english, 2014

4

Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2

Nakayama, Takahiro, Nakamura, Harumasa, Oya, Yasushi, Kimura, Takashi, Imahuku, Ichiro, Ohno, Kinji, Nishino, Ichizo, Abe, Koji, Matsuura, Tohru

Journal:

Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 506 KB

english, 2014

5

Truncated UDP-glucuronosyltransferase (UGT) from a Crigler–Najjar syndrome type II patient colocalizes with intact UGT in the endoplasmic reticulum

Suzuki, Masahiro, Hirata, Marie, Takagi, Miho, Watanabe, Taiichi, Iguchi, Tomohiro, Koiwai, Kotaro, Maezawa, So, Koiwai, Osamu

Journal:

Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 775 KB

english, 2014

6

Concurrent MCL1 and JUN amplification in pseudomyxoma peritonei: a comprehensive genetic profiling and survival analysis

Sio, Terence T, Mansfield, Aaron S, Grotz, Travis E, Graham, Rondell P, Molina, Julian R, Que, Florencia G, Miller, Robert C

Journal:

Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 578 KB

english, 2014

7

A commentary on the promise of whole-exome sequencing in medical genetics

Kaname, Tadashi, Yanagi, Kumiko, Naritomi, Kenji

Journal:

Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 102 KB

english, 2014

8

Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated ND1 G3460A mutation in Chinese families

Ji, Yanchun, Liang, Min, Zhang, Juanjuan, Zhang, Minglian, Zhu, Jinping, Meng, Xiangjuan, Zhang, Sai, Gao, Min, Zhao, Fuxin, Wei, Qi-Ping, Jiang, Pingping, Tong, Yi, Liu, Xiaoling, Qin Mo, Jun, Guan,

Journal:

Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 620 KB

english, 2014

9

Association of miR-146a gene polymorphism with risk of nasopharyngeal carcinoma in the central-southern Chinese population

Huang, Guo-Liang, Chen, Mei-Ling, Li, Ya-Zhen, Lu, Yan, Pu, Xing-Xiang, He, Yu-Xiang, Tang, Shu-Yin, Che, Hua, Zou, Ying, Ding, Congcong, He, Zhiwei

Journal:

Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 215 KB

english, 2014

10

A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation

Veneziano, Liana, Mantuano, Elide, Catalli, Claudio, Gellera, Cinzia, Durr, Alexandra, Romano, Silvia, Spadaro, Maria, Frontali, Marina, Novelletto, Andrea

Journal:

Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 582 KB

english, 2014