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Life-threatening muscle complications of COL4A1-related disorder

Okano, S; Shimada, S; Tanaka, R; Okayama, A; Kajihama, A; Suzuki, N; Nakau, K; Takahashi, S; Matsumoto, N; Saitsu, H; Tanboon, J; Nishino, I; Azuma, H

Okano, S (corresponding author), Asahikawa Med Univ, Dept Pediat, 2-1-1-1 Midorigaoka Higashi, Asahikawa, Hokkaido 0788510, Japan.

BRAIN & DEVELOPMENT, 2020; 42 (1): 93

Abstract

COL4A1-related disorder is recognized as a systemic disease because the alpha 1 chain of type IV collagen, encoded by COL4A1, is essential for basemen......

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