File:Fped-09-679279-g0001 (1).jpg
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Summary
| Description |
English: The clinical data and genetic analysis of the family with IMTP and mild bleeding. (A) Pedigree of the family. Black circles/squares are affected; white circles/squares are unaffected; slashed symbol is deceased family member. Arrow indicates the proband. (B) Blood smears (May-Grünwald Giemsa staining) revealed macrothrombocytopenia in the proband and his mother. (C) Sanger DNA sequencing chromatogram demonstrates the heterozygosity for an ACTN1 frameshift mutation (NM_001130004: c.398_399insTGCG, p.F134AfsX60) in affected members. (D) Western blot analysis of the expression of ACTN1 in the proband's platelets. |
| Date | |
| Source | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8253534/ |
| Author | Fang-Mei Luo,Liang-Liang Fan, Yue Sheng, Yi Dong, Lv Liu |
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English: This file is licensed CC BY-NC 4.0
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| Date/Time | Thumbnail | Dimensions | User | Comment | |
|---|---|---|---|---|---|
| current | 15:58, 1 July 2023 | | 596 × 254 (17 KB) | Ozzie10aaaa (talk | contribs) | Uploaded a work by Fang-Mei Luo,Liang-Liang Fan, Yue Sheng, Yi Dong, Lv Liu from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8253534/ with UploadWizard |
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