Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

BACKGROUND: Coat protein complex 1 (COPI) is integral in the sorting and retrograde trafficking of proteins and lipids from the Golgi apparatus to the endoplasmic reticulum (ER). In recent years, coat proteins have been implicated in human diseases known collectively as “coatopathies”. METHODS: Whol...

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Detaylı Bibliyografya
Asıl Yazarlar: Macken, William L., Godwin, Annie, Wheway, Gabrielle, Stals, Karen, Nazlamova, Liliya, Ellard, Sian, Alfares, Ahmed, Aloraini, Taghrid, AlSubaie, Lamia, Alfadhel, Majid, Alajaji, Sulaiman, Wai, Htoo A., Self, Jay, Douglas, Andrew G. L., Kao, Alexander P., Guille, Matthew, Baralle, Diana
Materyal Türü: Metin
Dil:İngilizce
Baskı/Yayın Bilgisi: BioMed Central 2021
Konular:
Research
Online Erişim:https://pmc.ncbi.nlm.nih.gov/articles/PMC7908744/
https://pubmed.ncbi.nlm.nih.gov/33632302
http://dx.doi.org/10.1186/s13073-021-00850-w
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Internet

https://pmc.ncbi.nlm.nih.gov/articles/PMC7908744/
https://pubmed.ncbi.nlm.nih.gov/33632302
http://dx.doi.org/10.1186/s13073-021-00850-w

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