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Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia

Ayca Kiykim,Wojciech Garncarz,Elif Karakoc-Aydiner,Ahmet Ozen,Ertugrul Kiykim,Gozde Yesil,Kaan Boztug,Safa Baris

Clinical Immunology（2016）

Cited 24|Views16
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Key words
3-Methylglutaconic acid,Microcephaly,Epilepsy,Cataract,Severe congenital neutropenia,CLPB
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