A missense mutation in domain III in HSPG2 in Schwartz–Jampel syndrome compromises secretion of perlecan into the extracellular space

Satoshi Iwata, Mikako Ito, Tomohiko Nakata, Yoichiro Noguchi, Tatsuya Okuno, Bisei Ohkawara, Akio Masuda, Tomohide Goto, Masanori Adachi, Hitoshi Osaka,

Neuromuscular Disorders · 2015 · 24 citations · 25 references

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