A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency
Rare autosomal-recessive variants in tetratricopeptide repeat domain 7A (TTC7A) gene have been shown to cause intestinal and immune disorders of variable severity. Missense mutations in TTC7A gene, usually retaining most of the functional motifs, is associated with relative milder clinical presentat...
I tiakina i:
| Ngā kaituhi matua: | , , , , , , , , , , , |
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| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
Frontiers Media S.A.
2021-12-01
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| Rangatū: | Frontiers in Immunology |
| Ngā marau: | |
| Urunga tuihono: | https://www.frontiersin.org/articles/10.3389/fimmu.2021.759308/full |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
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