Literature DB >> 8807340

Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.

B Gilbert-Dussardier1, B Segues, J M Rozet, D Rabier, P Calvas, L de Lumley, J P Bonnefond, A Munnich.   

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Year:  1996        PMID: 8807340     DOI: 10.1002/(SICI)1098-1004(1996)8:1<74::AID-HUMU11>3.0.CO;2-O

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


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  3 in total

1.  A genetic variation map for chicken with 2.8 million single-nucleotide polymorphisms.

Authors:  Gane Ka-Shu Wong; Bin Liu; Jun Wang; Yong Zhang; Xu Yang; Zengjin Zhang; Qingshun Meng; Jun Zhou; Dawei Li; Jingjing Zhang; Peixiang Ni; Songgang Li; Longhua Ran; Heng Li; Jianguo Zhang; Ruiqiang Li; Shengting Li; Hongkun Zheng; Wei Lin; Guangyuan Li; Xiaoling Wang; Wenming Zhao; Jun Li; Chen Ye; Mingtao Dai; Jue Ruan; Yan Zhou; Yuanzhe Li; Ximiao He; Yunze Zhang; Jing Wang; Xiangang Huang; Wei Tong; Jie Chen; Jia Ye; Chen Chen; Ning Wei; Guoqing Li; Le Dong; Fengdi Lan; Yongqiao Sun; Zhenpeng Zhang; Zheng Yang; Yingpu Yu; Yanqing Huang; Dandan He; Yan Xi; Dong Wei; Qiuhui Qi; Wenjie Li; Jianping Shi; Miaoheng Wang; Fei Xie; Jianjun Wang; Xiaowei Zhang; Pei Wang; Yiqiang Zhao; Ning Li; Ning Yang; Wei Dong; Songnian Hu; Changqing Zeng; Weimou Zheng; Bailin Hao; Ladeana W Hillier; Shiaw-Pyng Yang; Wesley C Warren; Richard K Wilson; Mikael Brandström; Hans Ellegren; Richard P M A Crooijmans; Jan J van der Poel; Henk Bovenhuis; Martien A M Groenen; Ivan Ovcharenko; Laurie Gordon; Lisa Stubbs; Susan Lucas; Tijana Glavina; Andrea Aerts; Pete Kaiser; Lisa Rothwell; John R Young; Sally Rogers; Brian A Walker; Andy van Hateren; Jim Kaufman; Nat Bumstead; Susan J Lamont; Huaijun Zhou; Paul M Hocking; David Morrice; Dirk-Jan de Koning; Andy Law; Neil Bartley; David W Burt; Henry Hunt; Hans H Cheng; Ulrika Gunnarsson; Per Wahlberg; Leif Andersson; Ellen Kindlund; Martti T Tammi; Björn Andersson; Caleb Webber; Chris P Ponting; Ian M Overton; Paul E Boardman; Haizhou Tang; Simon J Hubbard; Stuart A Wilson; Jun Yu; Jian Wang; Huanming Yang
Journal:  Nature       Date:  2004-12-09       Impact factor: 49.962

2.  Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy.

Authors:  Eric T Rush; Julianne E Hartmann; Jill C Skrabal; William B Rizzo
Journal:  SAGE Open Med Case Rep       Date:  2014-07-31

3.  Probing remote residues important for catalysis in Escherichia coli ornithine transcarbamoylase.

Authors:  Lisa Ngu; Jenifer N Winters; Kien Nguyen; Kevin E Ramos; Nicholas A DeLateur; Lee Makowski; Paul C Whitford; Mary Jo Ondrechen; Penny J Beuning
Journal:  PLoS One       Date:  2020-02-06       Impact factor: 3.240

  3 in total

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