Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene

Biochemical and Biophysical Research Communications

Volumn 227, Issue 1, 1996, Pages 236-239

  Pokharel, Rohit Kumar ^a   Alimsardjono, Haryanto ^a   Takeshima, Yasuhiro ^a   Nakamura, Hajime ^a   Naritomi, Kenji ^b   Hirose, Shinichi ^c   Onishi, Shoju ^d   Matsuo, Masafumi ^a  

^a KOBE UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITY OF THE RYUKYUS SCHOOL OF MEDICINE   (Japan)

^c FUKUOKA UNIVERSITY   (Japan)

^d KAGAWA PREFECTURAL UNIVERSITY OF HEALTH SCIENCES   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; FIBROBLAST GROWTH FACTOR RECEPTOR;

ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; HUMAN; HUMAN CELL; MALE; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RECEPTOR GENE; SCHOOL CHILD; THANATOPHORIC DWARFISM;

EID: 0030567966     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1006/bbrc.1996.1495     Document Type: Article

References (13)

1. 1. MacDonald, I. M., Hunter, A. G. W., MacLeod, P. M., and MacMurray, B. M. (1989) Am. J. Med. Genet. 33, 508-512.
2. 2. Peters, K., Ornitz, D., Werner, S., and Williams, L. (1993) Dev. Biol. 155, 423-430.
3. 3. Bellus, G. A., McIntosh, I., Smith, E. A., Aylworth, A. S., Kaitila, I., Horton, W. A., Greenhaw, G. A., Hecht, J. T., and Francoman, C. A. (1995) Nature Genet. 10, 357-359.
4. 4. Prinos, P., Costa, T., Sommer, A., Kilpatrick, M. W., and Tsipouras, P. (1995) Hum. Mol. Genet. 4, 2097-2101.
5. 5. Tavormina, P. L., Shiang, R., Thompson, L. M., Zhu, Y.-Z., Wilkin, D. J., Lachman, R. S., Wilcox, W. R., Rimoin, D. L., Cohn, D. H., and Wasmuth, J. J. (1995) Nature Genet. 9, 321-328.
6. 6. Rousseau, F., Bonaventure, J., Legeal-Mallet, L., Pelet, A., Rozet, J.-M., Maroteaux, P., le Merrer, M., and Munnich, A. (1994) Nature 371, 252-254.
7. 7. Shiang, R., Thompson, L. M., Zhu, Y.-Z., Church, D. M., Fielder, T. J., Bocian, M., Winokur, S. T., and Wasmuth, J. J. (1994) Cell 78, 335-342.
8. 8. Meyers, G. A., Orlow, S. J., Munro, I. R., Przylepa, K. A., and Jabs, E. W. (1995) Nature Genet. 11, 462-464.
9. 9. Tavormina, P. L., Rimoin, D. L., Cohn, D. H., Zhu, Y.-Z., Shiang, R., and Wasmuth, J. J. (1995) Hum. Mol. Genet. 4, 2175-2177.
10. 10. Rousseau, F., Saugier, P., le Merrer, M., Delezoide, A.-L., Maroteaux, P., and Bonaventure, J. (1995) Nature Genet. 10, 11-12.
11. 11. Matsuo, M., Masumura, T., Nishio, H., Nakajima, T., Kitoh, Y., Takumi, T., Koga, J., and Nakamura, H. (1991) J. Clin. Invest. 87, 2127-2131.
12. 12. Narita, N., Nishio, H., Kitoh, Y., Ishikawa, Y., Ishikawa, Y., Minami, R., Nakamura, H., and Matsuo, M. (1993) J. Clin. Invest. 91, 1862-1867.
13. 13. Cooper, D. N., and Youssoufian, H. (1988) Hum. Genet. 78, 151-155.