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A novel frameshift mutation at codon 66 (HBB:c.del201A) in the β-globin gene leads to beta-thalassemia
- Yu, N.;
- Kim, H.R.;
- Cha, Y.J.;
- Park, E.K.
Citations
WEB OF SCIENCE
2Citations
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2초록
[No abstract available]
키워드
beta globin; ferritin; haptoglobin; hemoglobin; hemoglobin A; hemoglobin F; iron; transferrin; abdominal pain; adult; amino acid substitution; anisopoikilocytosis; beta thalassemia; blood smear; bone marrow biopsy; case report; cell hyperplasia; codon; computer assisted tomography; disease severity; electrophoresis; erythrocyte deformability; erythrocyte disorder; erythroid cell; exon; family history; female; ferritin blood level; frameshift mutation; gene deletion; hematocrit; hemoglobin blood level; hepatomegaly; human; human tissue; iron blood level; iron deficiency anemia; jaundice; Korea; letter; mutational analysis; polymerase chain reaction; priority journal; RNA translation; sequence analysis; splenomegaly; transcription termination; transferrin blood level; Adult; beta-Globins; beta-Thalassemia; Codon; DNA Mutational Analysis; Female; Frameshift Mutation; Humans
- 제목
- A novel frameshift mutation at codon 66 (HBB:c.del201A) in the β-globin gene leads to beta-thalassemia
- 저자
- Yu, N.; Kim, H.R.; Cha, Y.J.; Park, E.K.
- 발행일
- 2011-02
- 유형
- Letter
- 권
- 90
- 호
- 2
- 페이지
- 243 ~ 244
- 언어
- ENG
- 출판사
- SPRINGER
- 발행국가
- 미국
- 분량
- 2 페이지
- ISSN
- E 1432-0584
P 0939-5555