A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families
収録刊行物
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- Am J Hum Genet
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Am J Hum Genet 63 390-398, 1998
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詳細情報 詳細情報について
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- CRID
- 1574231873878500096
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- NII論文ID
- 30017635747
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- DOI
- 10.1086/301948
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- データソース種別
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- CiNii Articles