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Volumn 101, Issue 1, 1997, Pages 113-117

Two different 5' splice site mutations in the growth hormone gene causing autosomal dominant growth hormone deficiency

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE; MESSENGER RNA; RNA PRECURSOR;

EID: 0031468346     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050597     Document Type: Article
Times cited : (36)

References (13)
  • 1
    • 0028955078 scopus 로고
    • Screening for growth hormone (GH) gene splice site mutation in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis
    • Binder G, Ranke MB (1995) Screening for growth hormone (GH) gene splice site mutation in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis. J Clin Endocrinol Metab 80 : 1247-1252
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 1247-1252
    • Binder, G.1    Ranke, M.B.2
  • 2
    • 0000511029 scopus 로고
    • Illegitimate transcription; transcription of any gene in any cell type
    • Chelly J, Concordet JP, Kaplan JC, Kahn A (1989) Illegitimate transcription; transcription of any gene in any cell type. Proc Natl Acad Sci 86 : 2617-2621
    • (1989) Proc Natl Acad Sci , vol.86 , pp. 2617-2621
    • Chelly, J.1    Concordet, J.P.2    Kaplan, J.C.3    Kahn, A.4
  • 4
    • 0023277545 scopus 로고
    • Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
    • Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162 : 156-159
    • (1987) Anal Biochem , vol.162 , pp. 156-159
    • Chomczynski, P.1    Sacchi, N.2
  • 5
    • 0028037298 scopus 로고
    • Familial growth hormone deficiency: A model of dominant and recessive mutations affecting a monomeric protein
    • Cogan JD, Phillips III JA, Schenkman RD, Milner RD, Sakatji N (1994) Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein. J Clin Endocrinol Metab 79 : 1261-1265
    • (1994) J Clin Endocrinol Metab , vol.79 , pp. 1261-1265
    • Cogan, J.D.1    Phillips III, J.A.2    Schenkman, R.D.3    Milner, R.D.4    Sakatji, N.5
  • 7
    • 0026598960 scopus 로고
    • Human growth hormone and extracellular domain of its receptor: Crystal structure of the complex
    • De Vos AM, Ultsch M, Kossiakoff A A (1992) Human growth hormone and extracellular domain of its receptor: crystal structure of the complex. Science 255 : 306-312
    • (1992) Science , vol.255 , pp. 306-312
    • De Vos, A.M.1    Ultsch, M.2    Kossiakoff, A.A.3
  • 10
    • 0028319104 scopus 로고
    • Utah: Growth study: growth standards and the prevalence of growth hormone deficiency
    • Lindsay R, Feldkamp M, Harris D, Robertson J, Rallison M (1994) Utah: growth study: growth standards and the prevalence of growth hormone deficiency. J Pediatr 125 : 29-35
    • (1994) J Pediatr , vol.125 , pp. 29-35
    • Lindsay, R.1    Feldkamp, M.2    Harris, D.3    Robertson, J.4    Rallison, M.5
  • 11
    • 0002475464 scopus 로고
    • Inherited defects in growth hormone synthesis and action
    • Scriver CR, Beaudet AL, Sly WS, Walle D (eds). McGraw-Hill, New York
    • Phillips III JA (1989) Inherited defects in growth hormone synthesis and action. In: Scriver CR, Beaudet AL, Sly WS, Walle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 1965-1983
    • (1989) The Metabolic Basis of Inherited Disease, 6th Edn. , pp. 1965-1983
    • Phillips III, J.A.1
  • 12
    • 0027982794 scopus 로고
    • Genetic basis of endocrine disease, molecular basis of familial human growth hormone deficiency
    • Phillips III JA, Cogan JD (1994) Genetic basis of endocrine disease, molecular basis of familial human growth hormone deficiency J Clin Endocrinol Metab 78 : 11-16
    • (1994) J Clin Endocrinol Metab , vol.78 , pp. 11-16
    • Phillips III, J.A.1    Cogan, J.D.2
  • 13
    • 0025098474 scopus 로고
    • Exon definition may facilitate splice site selection in RNAs with multiple exons
    • Robberson BL, Cote GJ, Berget SM (1990) Exon definition may facilitate splice site selection in RNAs with multiple exons. Mol Cell Biol 10 : 84-94
    • (1990) Mol Cell Biol , vol.10 , pp. 84-94
    • Robberson, B.L.1    Cote, G.J.2    Berget, S.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.