A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I)
Journal
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- Human Molecular Genetics
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Human Molecular Genetics 5 (11), 1733-1736, 1996-11-01
Oxford University Press (OUP)
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Details 詳細情報について
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- CRID
- 1363670320651802368
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- NII Article ID
- 30018400160
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- ISSN
- 14602083
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- Data Source
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- Crossref
- CiNii Articles