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1994 | 1 |
2014 | 1 |
2024 | 0 |
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FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.
Mol Genet Genomic Med. 2014 Nov;2(6):497-503. doi: 10.1002/mgg3.96. Epub 2014 Aug 5.
Mol Genet Genomic Med. 2014.
PMID: 25614871
Free PMC article.
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.
Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M, Winokur ST, Wasmuth JJ.
Shiang R, et al.
Cell. 1994 Jul 29;78(2):335-42. doi: 10.1016/0092-8674(94)90302-6.
Cell. 1994.
PMID: 7913883
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