A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia
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H. Bucher | R. Gitzelmann | H. Bucher | A. Superti-Furga | J. Wisser | B. Steinmann | A. Giedion | G. Eich | J. Wisser | Beat Steinmann
[1] Arnold Munnich,et al. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia , 1994, Nature.
[2] D. Church,et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia , 1994, Cell.
[3] J. Gusella,et al. The gene for achondroplasia maps to the telomeric region of chromosome 4p , 1994, Nature Genetics.
[4] Jean Weissenbach,et al. A gene for achondroplasia–hypochondroplasia maps to chromosome 4p , 1994, Nature Genetics.
[5] P. Leder,et al. Ligand specificity and heparin dependence of fibroblast growth factor receptors 1 and 3. , 1992, The Journal of biological chemistry.
[6] D. Housman,et al. A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4. , 1991, Genomics.
[7] G. Duc,et al. Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation , 1991, European Journal of Pediatrics.
[8] M. Hayman,et al. Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3. , 1991, Proceedings of the National Academy of Sciences of the United States of America.
[9] E. Pasquale. A distinctive family of embryonic protein-tyrosine kinase receptors. , 1990, Proceedings of the National Academy of Sciences of the United States of America.
[10] W. Chumlea,et al. Standards for limb bone length ratios in children. , 1982, Radiology.
[11] V. McKusick. GENERALIZED GENETIC DISORDERS OF THE OSSEOUS SKELETON. , 1965, JAMA.