Long‐term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1-Reference-Cited by-同舟云学术

Long‐term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1

Published:2020-03-27 Issue:6 Volume:182 Page:1500-1505
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Hayashi Takaaki¹²^ORCID,Hosono Katsuhiro³^ORCID,Kubo Akiko¹⁴,Kurata Kentaro³,Katagiri Satoshi¹^ORCID,Mizobuchi Kei¹^ORCID,Kurai Minehiro⁵,Mamiya Norihito⁵⁶,Kondo Mineo⁷,Tachibana Toshiaki⁸,Saitsu Hirotomo⁹,Ogata Tsutomu¹⁰^ORCID,Nakano Tadashi¹,Hotta Yoshihiro³^ORCID

Affiliation:

1. Department of OphthalmologyThe Jikei University School of Medicine Tokyo Japan

2. Department of Ophthalmology, Katsushika Medical CenterThe Jikei University School of Medicine Tokyo Japan

3. Department of OphthalmologyHamamatsu University School of Medicine Shizuoka Japan

4. Department of OphthalmologyKinan Hospital Mie Japan

5. Department of PediatricsKinan Hospital Mie Japan

6. Department of PediatricsMie University Graduate School of Medicine Mie Japan

7. Department of OphthalmologyMie University Graduate School of Medicine Mie Japan

8. Core Research Facilities for Basic ScienceThe Jikei University School of Medicine Tokyo Japan

9. Department of BiochemistryHamamatsu University School of Medicine, Shizuoka Japan

10. Department of PediatricsHamamatsu University School of Medicine Shizuoka Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61575

Reference23 articles.

1. Retinal Function in Mucolipidosis IV

2. The neurogenetics of mucolipidosis type IV

3. Mucolipidosis type IV: Clinical spectrum and natural history;Amir N.;Pediatrics,1987

4. A method of preparing peripheral leucocytes for electron microscopy

5. Identification of the gene causing mucolipidosis type IV

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