GBAP
| GBAP1 | |||||||
|---|---|---|---|---|---|---|---|
| Mã định danh | |||||||
| Danh pháp | GBAP1, GBAP, glucosylceramidase beta pseudogene 1, GBA, Beta-GC, GLUC, GC | ||||||
| ID ngoài | GeneCards: GBAP1 | ||||||
| Gen cùng nguồn | |||||||
| Loài | Người | Chuột | |||||
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| RefSeq (mRNA) |
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| RefSeq (protein) |
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| Vị trí gen (UCSC) | n/a | n/a | |||||
| PubMed | [1] | n/a | |||||
| Wikidata | |||||||
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Glucosidase, beta; axit, gen giả (tiếng Anh: Glucosidase, beta; acid, pseudogene), còn được gọi là GBAP, là gen ở người.[2]
Tham khảo
Đọc thêm
- Beutler E, West C, Gelbart T (1992). "Polymorphisms in the human glucocerebrosidase gene". Genomics. Quyển 12 số 4. tr. 795–800. doi:10.1016/0888-7543(92)90311-F. PMID 1572652.
- Sorge J, Gross E, West C, Beutler E (1990). "High level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher disease". J. Clin. Invest. Quyển 86 số 4. tr. 1137–41. doi:10.1172/JCI114818. PMC 296842. PMID 1698821.
- Zimran A, Sorge J, Gross E, Kubitz M, West C, Beutler E (1990). "A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder". J. Clin. Invest. Quyển 85 số 1. tr. 219–22. doi:10.1172/JCI114415. PMC 296408. PMID 2295698.
- Horowitz M, Wilder S, Horowitz Z, Reiner O, Gelbart T, Beutler E (1989). "The human glucocerebrosidase gene and pseudogene: structure and evolution". Genomics. Quyển 4 số 1. tr. 87–96. doi:10.1016/0888-7543(89)90319-4. PMID 2914709.
- Imai K, Nakamura M, Yamada M, Asano A, Yokoyama S, Tsuji S, Ginns EI (1994). "A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells". Gene. Quyển 136 số 1–2. tr. 365–8. doi:10.1016/0378-1119(93)90497-Q. PMID 8294033.
- Tayebi N, Cushner S, Sidransky E (1996). "Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: implications for Gaucher disease". Am. J. Hum. Genet. Quyển 59 số 3. tr. 740–1. PMC 1914901. PMID 8751878.
- Winfield SL, Tayebi N, Martin BM, Ginns EI, Sidransky E (1997). "Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease". Genome Res. Quyển 7 số 10. tr. 1020–6. doi:10.1101/gr.7.10.1020. PMC 310674. PMID 9331372.
- Martínez-Arias R, Calafell F, Mateu E, Comas D, Andrés A, Bertranpetit J (2001). "Sequence variability of a human pseudogene". Genome Res. Quyển 11 số 6. tr. 1071–85. doi:10.1101/gr.167701. PMC 311081. PMID 11381033.
- Martínez-Arias R, Bertranpetit J, Comas D (2002). "Determination of haploid DNA sequences in humans: application to the glucocerebrosidase pseudogene". DNA Seq. Quyển 13 số 1. tr. 9–13. doi:10.1080/10425170290019847. PMID 12180141.
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