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Volumn 142, Issue 2, 2008, Pages 324-326

The deletion of SOX8 is not associated with ATR-16 in an HbH family from Brazil

Author keywords

ATR 16; HbH; Mental retardation; Multiplex ligation dependent probe amplification; SOX8

Indexed keywords

ATR PROTEIN; HEMOGLOBIN; TRANSCRIPTION FACTOR SOX8;

EID: 47249109033     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2008.07187.x     Document Type: Letter
Times cited : (14)

References (10)
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  • 3
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    • Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification
    • Harteveld, C.L., Voskamp, A., Phylipsen, M., Akkermans, N., den Dunnen, J.T., White, S.J. Giordano, P.C. (2005) Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. Journal of Medical Genetics, 42, 922 931.
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    • Harteveld, C.L.1    Voskamp, A.2    Phylipsen, M.3    Akkermans, N.4    Den Dunnen, J.T.5    White, S.J.6    Giordano, P.C.7
  • 7
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    • The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome
    • Pfeifer, D., Poulat, F., Holinski-Feder, E., Kooy, F. Scherer, G. (2000) The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome. Genomics, 63, 108 116.
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    • Pfeifer, D.1    Poulat, F.2    Holinski-Feder, E.3    Kooy, F.4    Scherer, G.5
  • 8
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    • Idiopathic weight reduction in mice deficient in the high-mobility-group transcription factor Sox8
    • Sock, E., Schmidt, K., Hermanns-Borgmeyer, I., Bosl, M.R. Wegner, M. (2001) Idiopathic weight reduction in mice deficient in the high-mobility-group transcription factor Sox8. Molecular and Cellular Biology, 21, 6951 6959.
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    • Sock, E.1    Schmidt, K.2    Hermanns-Borgmeyer, I.3    Bosl, M.R.4    Wegner, M.5
  • 9
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    • Origin and possible roles of the SOX8 transcription factor gene during sexual development
    • Takada, S. Koopman, P. (2003) Origin and possible roles of the SOX8 transcription factor gene during sexual development. Cytogenetic and Genome Research, 101, 212 218.
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  • 10
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    • A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alpha-thalassemia
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    • Tan, A.S.C.1    Quah, T.C.2    Low, P.S.3    Chong, S.S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.