Concepedia

Publication | Closed Access

Biallelic <i>COLGALT1</i> variants are associated with cerebral small vessel disease

DOI

59

Citations

14

References

2018

Year

Satoko Miyatake, Sacha Schneeberger, Norihisa Koyama, Kenji Yokochi, Kayo Ohmura, Masaaki Shiina, Harushi Mori, Eriko Koshimizu, Eri Imagawa, Yuri Uchiyama,
Annals of Neurology

Abstract

Biallelic COLGALT1 variants cause cerebral small vessel abnormalities through a common molecular pathogenesis with COL4A1/COL4A2-related disorders. Ann Neurol 2018;84:843-853.

References

YearCitations

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