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Journal of Pediatric Endocrinology and Metabolism
Volumn 21, Issue 12, 2008, Pages 1107-1109
Growth hormone receptor deficiency in South America: Colonial history, molecular biology, and growth and metabolic insights
Author keywords

[No Author keywords available]
Indexed keywords

GROWTH HORMONE RECEPTOR;
EID: 58149487232     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2008.21.12.1107     Document Type: Note
Times cited : (7)
References (7)
  • 2
    • 0013890168 scopus 로고
    • Genetic pituitary dwarfism with high serum concentrations of growth hormone-a new inborn error of metabolism?
    • Laron Z, Pertzelan A, Mannheimer S. Genetic pituitary dwarfism with high serum concentrations of growth hormone-a new inborn error of metabolism? Isr J Med Sci 1966; 2: 152-155.
    • (1966) Isr J Med Sci , vol.2 , pp. 152-155
    • Laron, Z.1    Pertzelan, A.2    Mannheimer, S.3
  • 3
    • 0027024834 scopus 로고
    • Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorian patients with Laron syndrome
    • Berg MA, Guevara-Aguirre J, Rosenbloom AL, Rosenfeld RG, Francke U. Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorian patients with Laron syndrome. Hum Mutat 1992; 1: 24-34.
    • (1992) Hum Mutat , vol.1 , pp. 24-34
    • Berg, M.A.1    Guevara-Aguirre, J.2    Rosenbloom, A.L.3    Rosenfeld, R.G.4    Francke, U.5
  • 4
    • 0027931590 scopus 로고
    • Receptor mutations and haplotypes in growth hormone receptor deficiency: A global survey and identification of the Ecuadorean E180 splice mutation in an oriental Jewish patient
    • Berg MA, Peoples R, Perez JL, Guevara-Aguirre J, Rosenbloom AL, Laron Z, Milner RD, Francke U. Receptor mutations and haplotypes in growth hormone receptor deficiency: a global survey and identification of the Ecuadorean E180 splice mutation in an oriental Jewish patient. Acta Paediatr Suppl 1994; 339: 112-114.
    • (1994) Acta Paediatr Suppl , vol.339 , pp. 112-114
    • Berg, M.A.1    Peoples, R.2    Perez, J.L.3    Guevara-Aguirre, J.4    Rosenbloom, A.L.5    Laron, Z.6    Milner, R.D.7    Francke, U.8
  • 5
    • 58149516313 scopus 로고    scopus 로고
    • E180splice mutation in the growth hormone receptor gene in a Chilean family with growth hormone insensitivity: A probable common Mediterranean ancestor
    • Espinosa C, Sjoberg M, Salazar T, Rodriguez A, Cassorla FG, Mericq MV, Carvallo P. E180splice mutation in the growth hormone receptor gene in a Chilean family with growth hormone insensitivity: a probable common Mediterranean ancestor. J Pediatr Endocrinol Metab 2008; 21: 1119-1127.
    • (2008) J Pediatr Endocrinol Metab , vol.21 , pp. 1119-1127
    • Espinosa, C.1    Sjoberg, M.2    Salazar, T.3    Rodriguez, A.4    Cassorla, F.G.5    Mericq, M.V.6    Carvallo, P.7
  • 6
    • 33749074521 scopus 로고    scopus 로고
    • Founder effect of E180 splice mutation in growth hormone receptor gene (GHR) identified in Brazilian patients with GH insensitivity. Arq Bras Endocrinol
    • Jorge AA, Menezes Filho HC, Lins TS, Guedes DR, Damiani D, Setian N, Arnhold IJ, Mendonça BB. Founder effect of E180 splice mutation in growth hormone receptor gene (GHR) identified in Brazilian patients with GH insensitivity. Arq Bras Endocrinol Metabol 2005; 49: 384-389.
    • (2005) Metabol , vol.49 , pp. 384-389
    • Jorge, A.A.1    Menezes Filho, H.C.2    Lins, T.S.3    Guedes, D.R.4    Damiani, D.5    Setian, N.6    Arnhold, I.J.7    Mendonça, B.B.8

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.