Novel human pathological mutations. Gene symbol: PLOD1. Disease: Ehlers-Danlos syndrome type VIA, kyphoscoliotic type (original) (raw)

Human Genetics, 2009

Abstract

... Xia Cao, Pei Yean Cheah Department of Colorectal Surgery, Singapore General Hospital, Outram Road, Singapore 169608, Singapore, e-mail: gcscao@sgh.com.sg, Tel.: +65-63213636, Fax: +65 ... Eva Brauers, Thomas Eggermann Institute of Human Genetics, Pauwelsstr. ...

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