BCS1L mutations produce Fanconi syndrome with developmental disability-Reference-Cited by-同舟云学术

BCS1L mutations produce Fanconi syndrome with developmental disability

Published:2021-10-15 Issue: Volume: Page:
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Kanako Kojima-Ishii,Sakakibara Nana^ORCID,Murayama Kei,Nagatani Koji,Murata Satoshi,Otake Akira,Koga Yasutoshi^ORCID,Suzuki Hisato^ORCID,Uehara Tomoko,Kosaki Kenjiro,Yoshiura Koh-ichiro^ORCID,Mishima Hiroyuki^ORCID,Ichimiya Yuko,Mushimoto Yuichi,Horinouchi Tomoko^ORCID,Nagano China,Yamamura Tomohiko^ORCID,Iijima Kazumoto,Nozu Kandai^ORCID

Funder

Grants-in-Aid for Scientific Research (KAKENHI) from the Ministry of Education, Culture, Sports, Science and Technology of Japan

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

https://www.nature.com/articles/s10038-021-00984-0.pdf

Reference31 articles.

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2. Magen D, Berger L, Coady MJ, Ilivitzki A, Militianu D, Tieder M, et al. A loss-of-function mutation in NaPi-IIa and renal Fanconi’s syndrome. N Engl J Med. 2010;362:1102–9.

3. Klootwijk ED, Reichold M, Helip-Wooley A, Tolaymat A, Broeker C, Robinette SL, et al. Mistargeting of peroxisomal EHHADH and inherited renal Fanconi’s syndrome. N Engl J Med. 2014;370:129–38.