SCOPUS 정보 검색 플랫폼

Hemoglobin

Volumn 26, Issue 3, 2002, Pages 317-320

Identification of a compound β-thalassemia homozygosity [codon 10 (GCC→GCA) and codon 16 (-C)] in an Afghan family

(2) Krugluger, Walter a Hopmeier, Pierre a

a KRANKENANSTALT RUDOLFSTIFTUNG (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AFGHANISTAN; ARTICLE; BETA THALASSEMIA; CASE REPORT; CHILD; CODON; FEMALE; GENE DELETION; GENE MUTATION; HOMOZYGOSITY; HUMAN; IRON OVERLOAD; MALE; MULTIGENE FAMILY; POLYADENYLATION; PROMOTER REGION; FAMILY HEALTH; FRAMESHIFT MUTATION; GENETICS; HOMOZYGOTE; METHODOLOGY; MUTATION; NUCLEOTIDE SEQUENCE; POINT MUTATION; STOP CODON;

GLOBIN;

ADULT; AFGHANISTAN; BETA-THALASSEMIA; CHILD; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; FRAMESHIFT MUTATION; GLOBINS; HOMOZYGOTE; HUMANS; MALE; MUTATION; POINT MUTATION;

EID: 0036400638 PISSN: 03630269 EISSN: None Source Type: Journal
DOI: 10.1081/HEM-120015037 Document Type: Article

Times cited : (3)

References (5)

1
- 0033536288
- The β-thalassemias
- Olivieri, N.F. The β-Thalassemias. N. Engl. J. Med. 1999, 341, 99-109.
- (1999) N. Engl. J. Med. , vol.341 , pp. 99-109
- Olivieri, N.F.¹

2
- 0003508804
- The Sickle Cell Anemia Foundation: Augusta, GA, USA
- Huisman, T.H.J.; Carver, M.F.H.; Efremov, G.D. A Syllabus of Human Hemoglobin Variants (Second Edition); The Sickle Cell Anemia Foundation: Augusta, GA, USA, 1998 (http://globin.cse.psu.edu).
- (1998) A Syllabus of Human Hemoglobin Variants (Second Edition)
- Huisman, T.H.J.¹ Carver, M.F.H.² Efremov, G.D.³

3
- 0021399557
- Molecular characterization of seven β-thalassemia mutations in Asian Indians
- Kazazian, H.H., Jr.; Orkin, S.H.; Antonarakis, S.E.; Sexton, J.P.; Boehm, C.D.; Goff, S.C.; Waber, P.G. Molecular Characterization of Seven β-Thalassemia Mutations in Asian Indians. EMBO J. 1984, 3, 593-596.
- (1984) EMBO J. , vol.3 , pp. 593-596
- Kazazian H.H., Jr.¹ Orkin, S.H.² Antonarakis, S.E.³ Sexton, J.P.⁴ Boehm, C.D.⁵ Goff, S.C.⁶ Waber, P.G.⁷

4
- 18244409133
- A multi-center study in order to further define the molecular basis of β-thalassemia in Thailand Pakistan, Sri Lanka, Mauritius, Syria, and India, and to develop a simple molecular diagnostic strategy by amplification refractory mutation system-polymerase chain reaction
- Old, J.M.; Khan, S.N.; Verma, I.; Fucharoen, S.; Kleanthous, M.; Ioannou, P.; Kotea, N.; Fisher, C.; Riazuddin, S.; Saxena, R.; Winichagoon, P.; Kyriacou, K.; Al-Quobaili, E; Khan, B. A Multi-Center Study in Order to Further Define the Molecular Basis of β-Thalassemia in Thailand, Pakistan, Sri Lanka, Mauritius, Syria, and India, and to Develop a Simple Molecular Diagnostic Strategy by Amplification Refractory Mutation System-Polymerase Chain Reaction. Hemoglobin 2001, 25 (4), 397-407.
- (2001) Hemoglobin , vol.25 , Issue.4 , pp. 397-407
- Old, J.M.¹ Khan, S.N.² Verma, I.³ Fucharoen, S.⁴ Kleanthous, M.⁵ Ioannou, P.⁶ Kotea, N.⁷ Fisher, C.⁸ Riazuddin, S.⁹ Saxena, R.¹⁰ Winichagoon, P.¹¹ Kyriacou, K.¹² Al-Quobaili, E.¹³ Khan, B.¹⁴

5
- 0031009450
- -thalassemia mutation (codon 10 GCC→GCA) and a rare transcriptional mutation (-28 A→G) in Indians
- -Thalassemia Mutation (Codon 10 GCC → GCA) and a Rare Transcriptional Mutation (-28 A → G) in Indians. Blood 1997, 89, 3888-3894.
- (1997) Blood , vol.89 , pp. 3888-3894
- Pawar, A.R.¹ Colah, R.B.² Mohanty, D.³

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.