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A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing |
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| Authors: | Xiuhua Wang Maureen Poh-Fitzpatrick Damaris Carriero Ludmila Ostasiewicz Timothy Chen Shigeru Taketani Sergio Piomello |
| Institution: | 1. Division of Pediatric Hematology, Columbia University College of Physicians and Surgeons, New York, NY USA;2. Department of Dermatology, New York Medical College, Valhalla, NY USA;3. Department of Hygiene, Kansai Medical University, Osaka Japan |
| Abstract: | An aberrant ferrochelatase mRNA lacking exon 10 was found in a patient with erythropoietic protoporphyria (EPP). In her genomic DNA an A → T transversion at position ?3 of the donor site of intron 10 appeared to be responsible for the exon skipping. Both the patient and her sister were heterozygous for this mutation. |
| Keywords: | Erythrpoiesis Ferrochelatase Splicing Exon skipping |
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