Title |
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases
|
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Published in |
American Journal of Human Genetics, June 2019
|
DOI | 10.1016/j.ajhg.2019.05.019 |
Pubmed ID | |
Authors |
Yoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Baratang, Praveen K Raju, Alexej Knaus, Sian Ellard, Gabriela Jones, Baiba Lace, Justine Rousseau, Norbert Fonya Ajeawung, Atsushi Kamei, Gaku Minase, Manami Akasaka, Nami Araya, Eriko Koshimizu, Jenneke van den Ende, Florian Erger, Janine Altmüller, Zita Krumina, Jurgis Strautmanis, Inna Inashkina, Janis Stavusis, Areeg El-Gharbawy, Jessica Sebastian, Ratna Dua Puri, Samarth Kulshrestha, Ishwar C Verma, Esther M Maier, Tobias B Haack, Anil Israni, Julia Baptista, Adam Gunning, Jill A Rosenfeld, Pengfei Liu, Marieke Joosten, María Eugenia Rocha, Mais O Hashem, Hesham M Aldhalaan, Fowzan S Alkuraya, Satoko Miyatake, Naomichi Matsumoto, Peter M Krawitz, Elsa Rossignol, Taroh Kinoshita, Philippe M Campeau |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 3 | 33% |
United States | 2 | 22% |
Grenada | 1 | 11% |
Israel | 1 | 11% |
Unknown | 2 | 22% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 5 | 56% |
Members of the public | 2 | 22% |
Practitioners (doctors, other healthcare professionals) | 1 | 11% |
Science communicators (journalists, bloggers, editors) | 1 | 11% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 59 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 8 | 14% |
Student > Master | 7 | 12% |
Researcher | 6 | 10% |
Student > Doctoral Student | 4 | 7% |
Student > Bachelor | 4 | 7% |
Other | 4 | 7% |
Unknown | 26 | 44% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 10 | 17% |
Medicine and Dentistry | 7 | 12% |
Agricultural and Biological Sciences | 4 | 7% |
Neuroscience | 3 | 5% |
Linguistics | 1 | 2% |
Other | 5 | 8% |
Unknown | 29 | 49% |