DOI: 10.1055/s-00000041

Neuropediatrics

References

Shapira YA, Sadeh ME, Bergtraum MP, Tsujino A, Ohno K, Shen XM. et al.
Three novel COLQ mutations and variation of phenotypic expressivity due to G240 X. 
Neurology 2002; 58: 603-609  

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