Literature DB >> 11474210

Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency.

T Aoshima1, M Kajita, Y Sekido, S Kikuchi, I Yasuda, T Saheki, K Watanabe, K Shimokata, T Niwa.   

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Year:  2001        PMID： 11474210     DOI： 10.1159/000053360

Source DB:  PubMed          Journal:  Hum Hered        ISSN： 0001-5652            Impact factor:   0.444


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  8 in total

1.  Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies.

Authors:  S Funghini; A Morrone; E Pasquini; E Zammarchi; M A Donati
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

2.  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

3.  Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.

Authors:  Johannes Häberle; Oleg A Shchelochkov; Jing Wang; Panagiotis Katsonis; Lynn Hall; Sara Reiss; Angela Eeds; Alecia Willis; Meeta Yadav; Samantha Summar; Olivier Lichtarge; Vicente Rubio; Lee-Jun Wong; Marshall Summar
Journal:  Hum Mutat       Date:  2011-05-05       Impact factor: 4.878

4.  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

5.  Characterizing neutral genomic diversity and selection signatures in indigenous populations of Moroccan goats (Capra hircus) using WGS data.

Authors:  Badr Benjelloun; Florian J Alberto; Ian Streeter; Frédéric Boyer; Eric Coissac; Sylvie Stucki; Mohammed BenBati; Mustapha Ibnelbachyr; Mouad Chentouf; Abdelmajid Bechchari; Kevin Leempoel; Adriana Alberti; Stefan Engelen; Abdelkader Chikhi; Laura Clarke; Paul Flicek; Stéphane Joost; Pierre Taberlet; François Pompanon
Journal:  Front Genet       Date:  2015-04-07       Impact factor: 4.599

6.  Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

Authors:  Emma S Reid; Apostolos Papandreou; Suzanne Drury; Christopher Boustred; Wyatt W Yue; Yehani Wedatilake; Clare Beesley; Thomas S Jacques; Glenn Anderson; Lara Abulhoul; Alex Broomfield; Maureen Cleary; Stephanie Grunewald; Sophia M Varadkar; Nick Lench; Shamima Rahman; Paul Gissen; Peter T Clayton; Philippa B Mills
Journal:  Brain       Date:  2016-11-01       Impact factor: 13.501

7.  Novel Neonatal Variants of the Carbamoyl Phosphate Synthetase 1 Deficiency: Two Case Reports and Review of Literature.

Authors:  Beibei Yan; Chao Wang; Kaihui Zhang; Haiyan Zhang; Min Gao; Yuqiang Lv; Xiaoying Li; Yi Liu; Zhongtao Gai
Journal:  Front Genet       Date:  2019-08-22       Impact factor: 4.599

8.  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
  8 in total

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