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Volumn 87, Issue 2, 2002, Pages 847-852

An exon splice enhancer mutation causes autosomal dominant GH deficiency

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; GROWTH HORMONE; GUANINE;

EID: 0036171787     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.87.2.8236     Document Type: Article
Times cited : (95)

References (26)
  • 7
    • 0028955078 scopus 로고
    • Screening for growth hormone (GH) gene splice-site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 1247-1252
    • Binder, G.1    Ranke, M.B.2
  • 15
    • 0031792510 scopus 로고    scopus 로고
    • Consensus guidelines for the diagnosis and treatment of adults with growth hormone deficiency: Summary statement of the Growth Hormone Research Society Workshop on adult growth hormone deficiency
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 379-381
  • 22
    • 0026794668 scopus 로고
    • The mutational spectrum of single base-pair substitutions in messenger RNA splice junctions of human genes-causes and consequences
    • (1992) Hum Genet , vol.90 , pp. 41-54
    • Krawczak, M.1    Reiss, J.2    Cooper, D.N.3
  • 23
    • 0034161419 scopus 로고    scopus 로고
    • Exonic splicing enhancers: Mechanism of action, diversity and role in human genetic diseases
    • (2000) Trends Biochem Sci , vol.25 , pp. 106-110
    • Blencowe, B.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.