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letter . 2004 Jan;41(1):75–79. doi: 10.1136/jmg.2003.013722
Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type
G Nishimura
, E Nakashima
, A Mabuchi
, K Shimamoto
, T Shimamoto
, Y Shimao
, T Nagai
, T Yamaguchi
, R Kosaki
, H Ohashi
, Y Makita
, S Ikegawa
G Nishimura
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E Nakashima
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A Mabuchi
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K Shimamoto
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T Shimamoto
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Y Shimao
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T Nagai
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T Yamaguchi
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R Kosaki
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H Ohashi
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Y Makita
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S Ikegawa
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PMCID: PMC1757240 PMID: 14729840