Literature DB >> 7590739

Assignment of the human carbamyl phosphate synthetase I gene (CPS1) to 2q35 by fluorescence in situ hybridization.

R Hoshide1, H Soejima, T Ohta, N Niikawa, Y Haraguchi, T Matsuura, F Endo, I Matsuda.   

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Year:  1995        PMID： 7590739     DOI： 10.1006/geno.1995.1119

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


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  4 in total

1.  Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing.

Authors:  Guoqing Zhang; Yulin Chen; Huiqun Ju; Fei Bei; Jing Li; Jian Wang; Jianhua Sun; Jun Bu
Journal:  J Clin Lab Anal       Date:  2017-04-26       Impact factor: 2.352

2.  Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.

Authors:  Keiji Kurokawa; Tohru Yorifuji; Masahiko Kawai; Toru Momoi; Hironori Nagasaka; Masaki Takayanagi; Keiko Kobayashi; Makoto Yoshino; Tomoki Kosho; Masanori Adachi; Harumi Otsuka; Shigenori Yamamoto; Toshiaki Murata; Akihito Suenaga; Tsutomu Ishii; Kihei Terada; Naoto Shimura; Kohji Kiwaki; Haruo Shintaku; Masaru Yamakawa; Hiroki Nakabayashi; Yosuke Wakutani; Tatsutoshi Nakahata
Journal:  J Hum Genet       Date:  2007-02-20       Impact factor: 3.172

3.  Exploring Metabolic Consequences of CPS1 and CAD Dysregulation in Hepatocellular Carcinoma by Network Reconstruction.

Authors:  Ozbil E Dumenci; Abellona Mr U; Shahid A Khan; Elaine Holmes; Simon D Taylor-Robinson
Journal:  J Hepatocell Carcinoma       Date:  2020-01-07

4.  Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing.

Authors:  Jasmine Isler; Véronique Rüfenacht; Corinne Gemperle; Gabriella Allegri; Johannes Häberle
Journal:  JIMD Rep       Date:  2020-01-09
  4 in total

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