Ehlers-Danlos syndrome type IV, vascular type, which demonstrated a novel point mutation in the COL3A1 gene.

Sadakata, Rinako

Ehlers-Danlos syndrome type IV, vascular type, which demonstrated a novel point mutation in the COL3A1 gene. [electronic resource] - Internal medicine (Tokyo, Japan) 2010 - 1797-800 p. digital

Publication Type: Case Reports; Journal Article

1349-7235

10.2169/internalmedicine.49.3435 doi


Collagen Type III--genetics
Ehlers-Danlos Syndrome--diagnosis
Humans
Male
Point Mutation--genetics
Young Adult