Recurrent NFIA K125E substitution represents a loss‐of‐function allele: Sensitive in vitro and in vivo assays for nontruncating alleles-Reference-Cited by-同舟云学术

Recurrent NFIA K125E substitution represents a loss‐of‐function allele: Sensitive in vitro and in vivo assays for nontruncating alleles

Published:2021-05-11 Issue:7 Volume:185 Page:2084-2093
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Uehara Tomoko¹^ORCID,Sanuki Rikako²,Ogura Yurie³,Yokoyama Atsushi⁴,Yoshida Takeshi⁴,Futagawa Hiroshi⁵,Yoshihashi Hiroshi⁵,Yamada Mamiko¹^ORCID,Suzuki Hisato¹^ORCID,Takenouchi Toshiki⁶,Matsubara Kohei²,Hirata Hiromi³,Kosaki Kenjiro¹^ORCID,Takano‐Shimizu Toshiyuki²

Affiliation:

1. Center for Medical Genetics Keio University School of Medicine Tokyo Japan

2. Advanced Insect Research Promotion Center Kyoto Institute of Technology Kyoto Japan

3. Department of Chemistry and Biological Science College of Science and Engineering, Aoyama Gakuin University Sagamihara Kanagawa Japan

4. Department of Pediatrics Kyoto University Graduate School of Medicine Tokyo Japan

5. Department of Genetics Tokyo Metropolitan Children's Medical Center Tokyo Japan

6. Department of Pediatrics Keio University Hospital Tokyo Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject