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Volumn 10, Issue 1, 1997, Pages 73-76

A case of isolated growth hormone (GH) deficiency with compound heterozygous abnormality at the GH-1 gene locus

Author keywords

compound heterozygote; GH 1 gene; IGHD; IGHD type IA

Indexed keywords

GROWTH HORMONE;

EID: 0030907599     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (6)

References (13)
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    • Igarashi Y, Ogawa M, Kamijo T, Iwatani N, Nishi Y, Kohno H, Masumura T, Koga J. A new mutation causing inherited growth hormone deficiency: a compound heterozygote of a 6.7 kb deletion and a two base deletion in the third exon of the GH-1 gene. Hum Mol Genet 1993; 2: 1073-1074.
    • (1993) Hum Mol Genet , vol.2 , pp. 1073-1074
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  • 5
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    • Use of polymerase chain reaction in detection of growth hormone gene deletions
    • Vnencak-Jones CL, Phillips JA 3rd, De Fen W. Use of polymerase chain reaction in detection of growth hormone gene deletions. J Clin Endocrinol Metab 1990; 70: 1550-1553.
    • (1990) J Clin Endocrinol Metab , vol.70 , pp. 1550-1553
    • Vnencak-Jones, C.L.1    Phillips III, J.A.2    De Fen, W.3
  • 7
    • 0026580105 scopus 로고
    • Nucleotide sequence of the complementary DNA for human Pit-1/GHF-1
    • Tatsumi K, Nomoto T, Amino N, Miyai K. Nucleotide sequence of the complementary DNA for human Pit-1/GHF-1. Biochim Biophys Acta 1992; 1129: 231-234.
    • (1992) Biochim Biophys Acta , vol.1129 , pp. 231-234
    • Tatsumi, K.1    Nomoto, T.2    Amino, N.3    Miyai, K.4
  • 8
    • 0022399215 scopus 로고
    • Human growth hormone gene deletion without antibody formation or growth arrest during treatment - A new entity?
    • Laron Z, Kelijman M, Pertzelan A, Keret R, Shoffner JM, Parks JS. Human growth hormone gene deletion without antibody formation or growth arrest during treatment - a new entity? lsr J Med Sci 1985; 21: 999-1006.
    • (1985) lsr J Med Sci , vol.21 , pp. 999-1006
    • Laron, Z.1    Kelijman, M.2    Pertzelan, A.3    Keret, R.4    Shoffner, J.M.5    Parks, J.S.6
  • 9
    • 0026535789 scopus 로고
    • Prevalence of human growth hormone-1 gene deletion among patients with isolated growth hormone deficiency from different populations
    • Mullis PE, Akinci A, Kanaka CH, Eble A, Brook CGD. Prevalence of human growth hormone-1 gene deletion among patients with isolated growth hormone deficiency from different populations. Pediatr Res 1992; 31: 532-534.
    • (1992) Pediatr Res , vol.31 , pp. 532-534
    • Mullis, P.E.1    Akinci, A.2    Kanaka, C.H.3    Eble, A.4    Brook, C.G.D.5
  • 10
    • 0027982794 scopus 로고
    • Genetic basis of endocrine disease 6. Molecular basis of familial human growth hormone deficiency
    • Phillips JA 3rd, Cogan JD. Genetic basis of endocrine disease 6. Molecular basis of familial human growth hormone deficiency. J Clin Endocrinol Metab 1994; 78: 11-16.
    • (1994) J Clin Endocrinol Metab , vol.78 , pp. 11-16
    • Phillips III, J.A.1    Cogan, J.D.2
  • 12
    • 0028037298 scopus 로고
    • Familial growth hormone deficiency: A model of dominant and recessive mutations affecting a monomeric protein
    • Cogan JD, Phillips JA 3rd, Schenkman SS, Milner RDG, Sakati N. Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein. J Clin Endocrinol Metab 1994; 79: 1261-1265.
    • (1994) J Clin Endocrinol Metab , vol.79 , pp. 1261-1265
    • Cogan, J.D.1    Phillips III, J.A.2    Schenkman, S.S.3    Milner, R.D.G.4    Sakati, N.5
  • 13
    • 0023320666 scopus 로고
    • Tissue-specific expression of the human growth hormone gene is conferred in part by the binding of a specific trans-acting factor
    • Leferve C, Imagawa M, Dana S, Grindlay J, Bodner M, Karin M. Tissue-specific expression of the human growth hormone gene is conferred in part by the binding of a specific trans-acting factor. EMBO J 1987; 6: 971-981.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.