Literature DB >> 8990011

A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV.

D W Anderson1, S Thakker-Varia, G Tromp, H Kuivaniemi, C A Stolle.   

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Year:  1997        PMID： 8990011     DOI： 10.1002/(SICI)1098-1004(1997)9:1<62::AID-HUMU11>3.0.CO;2-N

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


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  5 in total

Review 1.  Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

Authors:  Helena Kuivaniemi; Gerard Tromp
Journal:  Gene       Date:  2019-05-07       Impact factor: 3.688

2.  Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing.

Authors:  Ying Yang; Sheng Zhao; Guoqiang Sun; Fang Chen; Tongda Zhang; Jieping Song; Wenzhong Yang; Lin Wang; Nianji Zhan; Xiaohong Yang; Xia Zhu; Bin Rao; Zhenzhen Yin; Jing Zhou; Haisheng Yan; Yushan Huang; Jingyu Ye; Hui Huang; Chen Cheng; Shida Zhu; Jian Guo; Xun Xu; Xinlin Chen
Journal:  NPJ Genom Med       Date:  2022-05-13       Impact factor: 6.083

3.  Pathology of the large intestine in patients with vascular type Ehlers-Danlos syndrome.

Authors:  Hendrik Bläker; Benjamin Funke; Ingrid Hausser; Thilo Hackert; Peter Schirmacher; Frank Autschbach
Journal:  Virchows Arch       Date:  2007-05-09       Impact factor: 4.064

4.  Oral phenotype and scoring of vascular Ehlers-Danlos syndrome: a case-control study.

Authors:  François Côme Ferré; Michael Frank; Bruno Gogly; Lisa Golmard; Adrien Naveau; Hafida Chérifi; Joseph Emmerich; Frédérick Gaultier; Ariane Berdal; Xavier Jeunemaitre; Benjamin P J Fournier
Journal:  BMJ Open       Date:  2012-04-05       Impact factor: 2.692

5.  Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system.

Authors:  Gillian Morven Belbin; Jacqueline Odgis; Elena P Sorokin; Muh-Ching Yee; Sumita Kohli; Benjamin S Glicksberg; Christopher R Gignoux; Genevieve L Wojcik; Tielman Van Vleck; Janina M Jeff; Michael Linderman; Claudia Schurmann; Douglas Ruderfer; Xiaoqiang Cai; Amanda Merkelson; Anne E Justice; Kristin L Young; Misa Graff; Kari E North; Ulrike Peters; Regina James; Lucia Hindorff; Ruth Kornreich; Lisa Edelmann; Omri Gottesman; Eli Ea Stahl; Judy H Cho; Ruth Jf Loos; Erwin P Bottinger; Girish N Nadkarni; Noura S Abul-Husn; Eimear E Kenny
Journal:  Elife       Date:  2017-09-12       Impact factor: 8.140
  5 in total

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