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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Vydáno v:Genome Med
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2021
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7908744/
https://ncbi.nlm.nih.gov/pubmed/33632302
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-021-00850-w
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