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)

詳細情報 詳細情報について

• CRID

  1363670320651802368

• NII論文ID

  30018400160

• DOI

  10.1093/hmg/5.11.1733

• ISSN

  14602083

• Web Site

  http://academic.oup.com/hmg/article-pdf/5/11/1733/1663574/5-11-1733.pdf

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