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Erythropoietic protoporphyria, heterozygous cystinuria, and reduced peptidase A activity in a patient with 46,XX/46,XX,18q--mosaicism.
An interesting patient with a deletion of the long arm of chromosome 18 is presented. Her symptoms are severe in comparison with some other 18q--patients, yet she was found to have a mosaicism with a normal 46,XX karyotype in about 20% of her cultured lymphocytes. In addition, she had erythropoietic...
সংরক্ষণ করুন:
| প্রধান লেখক: | , , , |
|---|---|
| বিন্যাস: | Artigo |
| ভাষা: | Inglês |
| প্রকাশিত: |
1978
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| বিষয়গুলি: | |
| অনলাইন ব্যবহার করুন: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1013668/ https://ncbi.nlm.nih.gov/pubmed/641953 |
| ট্যাগগুলো: |
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