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Volumn 72, Issue 4, 1997, Pages 451-454

De novo 16p deletion: ATR-16 syndrome

Author keywords

Contiguous gene syndrome; Microdeletion; Thalassemia

Indexed keywords

ALPHA GLOBIN;

EID: 0030734601     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19971112)72:4<451::AID-AJMG15>3.0.CO;2-Q     Document Type: Article
Times cited : (18)

References (14)
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    • Borochovitz D, Levin SE, Krawitz S, Stevens K, Metz J (1970): Hemoglobin-H disease in association with multiple congenital abnormalities. Clin Pediatr 9:432-435.
    • (1970) Clin Pediatr , vol.9 , pp. 432-435
    • Borochovitz, D.1    Levin, S.E.2    Krawitz, S.3    Stevens, K.4    Metz, J.5
  • 2
    • 0021347359 scopus 로고
    • The haemoglobin H disease mental retardation syndrome: Molecular studies on the South African case
    • Bowcock AM, Van Tender S, Jenkins T (1984): The haemoglobin H disease mental retardation syndrome: Molecular studies on the South African case. Brit J Haem 56:69-78.
    • (1984) Brit J Haem , vol.56 , pp. 69-78
    • Bowcock, A.M.1    Van Tender, S.2    Jenkins, T.3
  • 4
    • 0020353046 scopus 로고
    • Cloning and nucleotide sequence analysis of human embryonic ζ-globin cDNA
    • Cohen-Solal MM, Authier B, deRiel JK, Murnane MJ, Forget BG (1982): Cloning and nucleotide sequence analysis of human embryonic ζ-globin cDNA. DNA 1:355-363.
    • (1982) DNA , vol.1 , pp. 355-363
    • Cohen-Solal, M.M.1    Authier, B.2    Deriel, J.K.3    Murnane, M.J.4    Forget, B.G.5
  • 6
    • 0028939603 scopus 로고
    • Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alph-thalassemia (ATR-X)
    • Gibbons RJ, Picketts, DJ, Villard L, Higgs DR (1995b): Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alph-thalassemia (ATR-X). Cell 80:837-845.
    • (1995) Cell , vol.80 , pp. 837-845
    • Gibbons, R.J.1    Picketts, D.J.2    Villard, L.3    Higgs, D.R.4
  • 11
    • 0020424683 scopus 로고
    • Hereditary anaemias: Genetic basis, clinical features, diagnosis, and treatment
    • WHO Working Group (1982): Hereditary anaemias: Genetic basis, clinical features, diagnosis, and treatment. Bull World Health Organ 60:643.
    • (1982) Bull World Health Organ , vol.60 , pp. 643


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.