| Literature DB >> 25933069 |
Yao Wang, Yazhou Cui, Xiaoyan Zhou, Jinxiang Han.
Abstract
Entities:
Year: 2015 PMID: 25933069 PMCID: PMC4416708 DOI: 10.1371/journal.pone.0127254
Source DB: PubMed Journal: PLoS One ISSN: 1932-6203 Impact factor: 3.240
Mutations identified in OI patients.
| Sample | Gene | Exon/Intron | Mutation (cDNA) | Mutation (Protein) | Mutation Type | Zygosity of mutation |
|---|---|---|---|---|---|---|
|
|
| Intron 1 | c.104-1 G>A | NA | Splicing | Heterozygous |
|
|
| Exon 32 | c.2192 G>C | p.Gly731Ala | Missense | Heterozygous |
|
|
| Exon 38 | c.2569 G>T | p.Gly857Cys | Missense | Heterozygous |
|
|
| Exon 24 | c.1135 G>A | p.Gly379Arg | Missense | Heterozygous |
|
|
| Intron 17 | c.1155+1 G>A | NA | Splicing | Heterozygous |
|
|
| Intron 17 | c.1155+1 G>A | NA | Splicing | Heterozygous |
|
|
| Intron 19 | c.937-3 C>T | NA | Splicing | Heterozygous |
|
|
| Exon 23 | c.1310_1312dupGAT | p.Asp437dup | Insertion | |
|
|
| Exon 15 | c.967 G>A | p.Gly323Arg | Missense | Heterozygous |
|
|
| Exon 38 | c.2332 G>A | p.Gly778Ser | Missense | Heterozygous |
|
|
| Exon 40 | c.2467 G>A | p. Gly823Ser | Missense | Heterozygous |
|
|
| Exon 48 | c.3433 G>T | p.Gly1145Cys | Missense | Heterozygous |
|
|
| Exon 52 | c.4048 G>A | p.Gly1350Ser | Missense | Heterozygous |
* new mutation found in the present study