메뉴 건너뛰기




Volumn 542, Issue 2, 2014, Pages 269-271

A new missense mutation in FGF23 gene in a male with hyperostosis-hyperphosphatemia syndrome (HHS)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; CHILD, PRESCHOOL; COMPUTER SIMULATION; FIBROBLAST GROWTH FACTORS; HOMOZYGOTE; HUMANS; HYPEROSTOSIS; HYPERPHOSPHATEMIA; MALE; MUTATION, MISSENSE; N-ACETYLGALACTOSAMINYLTRANSFERASES; PROTEIN CONFORMATION;

EID: 84898806088     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2014.03.052     Document Type: Letter
Times cited : (10)

References (8)
  • 1
    • 12844273414 scopus 로고    scopus 로고
    • Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders
    • Frishberg Y., Topaz O., Bergman R., et al. Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. Journal of Molecular Medicine 2005, 83(1):33-38.
    • (2005) Journal of Molecular Medicine , vol.83 , Issue.1 , pp. 33-38
    • Frishberg, Y.1    Topaz, O.2    Bergman, R.3
  • 4
    • 34247565954 scopus 로고    scopus 로고
    • Molecular insights into the klotho-dependent, endocrine mode of action of fibroblast growth factor 19 subfamily members
    • Goetz R., Beenken A., Ibrahimi O.A., et al. Molecular insights into the klotho-dependent, endocrine mode of action of fibroblast growth factor 19 subfamily members. Molecular and Cellular Biology 2007, 27(9):3417-3428.
    • (2007) Molecular and Cellular Biology , vol.27 , Issue.9 , pp. 3417-3428
    • Goetz, R.1    Beenken, A.2    Ibrahimi, O.A.3
  • 5
    • 17844397173 scopus 로고    scopus 로고
    • A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive
    • Ichikawa S., Lyles K.W., Econs M.J. A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive. Journal of Clinical Endocrinology and Metabolism 2005, 90(4):2420-2423.
    • (2005) Journal of Clinical Endocrinology and Metabolism , vol.90 , Issue.4 , pp. 2420-2423
    • Ichikawa, S.1    Lyles, K.W.2    Econs, M.J.3
  • 6
    • 77950395245 scopus 로고    scopus 로고
    • Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations
    • Ichikawa S., Baujat G., Seyahi A., et al. Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. American Journal of Medical Genetics Part A 2010, 152A(4):896-903.
    • (2010) American Journal of Medical Genetics Part A , vol.152 A , Issue.4 , pp. 896-903
    • Ichikawa, S.1    Baujat, G.2    Seyahi, A.3
  • 7
    • 72349083738 scopus 로고    scopus 로고
    • Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3
    • Joseph L., Hing S.N., Presneau N., et al. Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3. Skeletal Radiology 2010, 39(1):63-68.
    • (2010) Skeletal Radiology , vol.39 , Issue.1 , pp. 63-68
    • Joseph, L.1    Hing, S.N.2    Presneau, N.3
  • 8
    • 0019813356 scopus 로고
    • The syndrome of hyperostosis and hyperphosphatemia
    • Mikati M.A., Melhem R.E., Najjar S.S. The syndrome of hyperostosis and hyperphosphatemia. Journal of Pediatrics 1981, 99(6):900-904.
    • (1981) Journal of Pediatrics , vol.99 , Issue.6 , pp. 900-904
    • Mikati, M.A.1    Melhem, R.E.2    Najjar, S.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.