Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood. | Hum Mutat;28(4): 387-95, 2007 Apr. | MEDLINE

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Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.

Malfait, Fransiska; Symoens, Sofie; De Backer, Julie; Hermanns-Lê, Trinh; Sakalihasan, Natzi; Lapière, Charles M; Coucke, Paul; De Paepe, Anne.

Affiliation

Malfait F; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

Hum Mutat ; 28(4): 387-95, 2007 Apr.

Article in En | MEDLINE | ID: mdl-17211858

Subject(s)

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Collection: 01-internacional Database: MEDLINE Main subject: Rupture, Spontaneous / Collagen Type I / Ehlers-Danlos Syndrome Limits: Adolescent / Adult / Female / Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2007 Document type: Article Affiliation country: Bélgica

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Collection: 01-internacional Database: MEDLINE Main subject: Rupture, Spontaneous / Collagen Type I / Ehlers-Danlos Syndrome Limits: Adolescent / Adult / Female / Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2007 Document type: Article Affiliation country: Bélgica