메뉴 건너뛰기




Volumn 1, Issue 2, 1996, Pages 130-135

A common FGFR3 mutation functions as a diagnostic marker for achondroplasia-group disorders in the Japanese population

Author keywords

Achondroplasia; Fibroblast growth factor receptor 3; Japanese population; Mutation

Indexed keywords


EID: 0004307859     PISSN: 09492658     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02348804     Document Type: Article
Times cited : (5)

References (19)
  • 1
    • 0028890851 scopus 로고
    • Achondroplasia is defined by recurrent G380R mutations of FGFR3
    • Bellus GA, Hefferon TW, Ortiz de Luna RI, et al. Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet 1995;56:368-373.
    • (1995) Am J Hum Genet , vol.56 , pp. 368-373
    • Bellus, G.A.1    Hefferon, T.W.2    Ortiz De Luna, R.I.3
  • 2
    • 0029032394 scopus 로고
    • A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia
    • Bellus GA, McIntosh I, Anne Smith E, et al. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet 1995;10:357-359.
    • (1995) Nat Genet , vol.10 , pp. 357-359
    • Bellus, G.A.1    McIntosh, I.2    Anne Smith, E.3
  • 3
    • 0017614619 scopus 로고
    • A new estimate of the achondroplasia mutation rate
    • Gardner RJM. A new estimate of the achondroplasia mutation rate. Clin Genet 1977;11:31-38.
    • (1977) Clin Genet , vol.11 , pp. 31-38
    • Gardner, R.J.M.1
  • 4
    • 0029149589 scopus 로고
    • Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients
    • Ikegawa S, Fukushima Y, Isomura M, et al. Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients. Hum Genet 1995;96:309-311.
    • (1995) Hum Genet , vol.96 , pp. 309-311
    • Ikegawa, S.1    Fukushima, Y.2    Isomura, M.3
  • 6
    • 0013769508 scopus 로고
    • Achondroplasia in man and animals
    • Maroteaux P, Lamy M. Achondroplasia in man and animals. Clin Orthop 1964;33:91-103.
    • (1964) Clin Orthop , vol.33 , pp. 91-103
    • Maroteaux, P.1    Lamy, M.2
  • 7
    • 0018379162 scopus 로고
    • Achondroplasia and hypochondroplasia: Comments on frequency, mutation rate, and radiological features in skull and spine
    • Oberklaid F, Danks DM, Jensen F, et al. Achondroplasia and hypochondroplasia: Comments on frequency, mutation rate, and radiological features in skull and spine. J Med Genet 1979;16:140-146.
    • (1979) J Med Genet , vol.16 , pp. 140-146
    • Oberklaid, F.1    Danks, D.M.2    Jensen, F.3
  • 8
    • 0022493547 scopus 로고
    • The birth prevalence rates for the skeletal dysplasias
    • Orioli IM, Castilla EE, Barbosa-Neto JG. The birth prevalence rates for the skeletal dysplasias. J Med Genet 1986;23:328-332.
    • (1986) J Med Genet , vol.23 , pp. 328-332
    • Orioli, I.M.1    Castilla, E.E.2    Barbosa-Neto, J.G.3
  • 9
    • 0028093135 scopus 로고
    • Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia
    • Rousseau F, Bonaventure J, Legeai-Mallet L, et al. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature 1994;371:252-254.
    • (1994) Nature , vol.371 , pp. 252-254
    • Rousseau, F.1    Bonaventure, J.2    Legeai-Mallet, L.3
  • 10
    • 4243964105 scopus 로고
    • Not all hypochondroplasia families are linked to chromosome 4p16.3
    • Rousseau F, Bonaventure J, Hayden MR, et al. Not all hypochondroplasia families are linked to chromosome 4p16.3 (abstract). Am J Hum Genet 1994;55s:A202.
    • (1994) Am J Hum Genet , vol.55 S
    • Rousseau, F.1    Bonaventure, J.2    Hayden, M.R.3
  • 11
    • 0029298121 scopus 로고
    • Stop codon FGFR3 mutations in thanatophoric dwarfism type 1
    • Rousseau F, Saugier P, Le Merrer M, et al. Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. Nat Genet 1995;10:11-12.
    • (1995) Nat Genet , vol.10 , pp. 11-12
    • Rousseau, F.1    Saugier, P.2    Le Merrer, M.3
  • 13
    • 0027964261 scopus 로고
    • Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
    • Shiang R, Thompson LM, Zhu Y-Z, et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 1994;78:335-342.
    • (1994) Cell , vol.78 , pp. 335-342
    • Shiang, R.1    Thompson, L.M.2    Zhu, Y.-Z.3
  • 14
    • 0028924820 scopus 로고
    • A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia
    • Stoilov I, Kilpatrick MW, Tsipouras P. A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia. Am J Med Genet 1995;55:127-133.
    • (1995) Am J Med Genet , vol.55 , pp. 127-133
    • Stoilov, I.1    Kilpatrick, M.W.2    Tsipouras, P.3
  • 15
    • 0024616653 scopus 로고
    • Birth prevalence rates of skeletal dysplasias
    • Stoll C, Dott B, Roth M-P, et al. Birth prevalence rates of skeletal dysplasias. Clin Genet 1989;35:88-92.
    • (1989) Clin Genet , vol.35 , pp. 88-92
    • Stoll, C.1    Dott, B.2    Roth, M.-P.3
  • 16
    • 0028928630 scopus 로고
    • A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia
    • Superti-Furga A, Eich G, Bucher HU, et al. A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia. Eur J Pediatr 1995;154:215-219.
    • (1995) Eur J Pediatr , vol.154 , pp. 215-219
    • Superti-Furga, A.1    Eich, G.2    Bucher, H.U.3
  • 17
    • 0028872752 scopus 로고
    • Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
    • Tavormina PL, Shiang R, Thompson LM, et al. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet 1995;9:321-328.
    • (1995) Nat Genet , vol.9 , pp. 321-328
    • Tavormina, P.L.1    Shiang, R.2    Thompson, L.M.3
  • 19
    • 0019489479 scopus 로고
    • Achondroplasia and hypochondroplasia: Clinical variation and spinal stenosis
    • Wynne-Davies R, Walsh WK, Gormley J. Achondroplasia and hypochondroplasia: Clinical variation and spinal stenosis. J Bone Joint Surg Br 1981;63:508-515.
    • (1981) J Bone Joint Surg Br , vol.63 , pp. 508-515
    • Wynne-Davies, R.1    Walsh, W.K.2    Gormley, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.