Pub. Date : 2018 Sep
PMID : 29572562
3 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Here, we describe a consanguineous family with autosomal recessive OI caused by a novel homozygous glycine substitution in COL1A2, NM_000089.3: c.604G>A, p.(Gly202Ser), detected by whole-genome sequencing. | Glycine | collagen type I alpha 2 chain | Homo sapiens |
| 2 | Interestingly, the parents and one sister, all carriers of the COL1A2 glycine mutation, did not have manifestations of OI. | Glycine | collagen type I alpha 2 chain | Homo sapiens |
| 3 | In summary, we report on autosomal recessive OI caused by a homozygous glycine-to-serine substitution in COL1A2, leading to severe skeletal fragility. | Glycine | collagen type I alpha 2 chain | Homo sapiens |