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

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Bibliographic Details
Published in:	Clinical immunology (Orlando, Fla.) Fla.), 2016-04, Vol.165, p.1-3
Main Authors:	Kiykim, Ayca, Garncarz, Wojciech, Karakoc-Aydiner, Elif, Ozen, Ahmet, Kiykim, Ertugrul, Yesil, Gozde, Boztug, Kaan, Baris, Safa
Format:	Article
Language:	English
Subjects:	3-Methylglutaconic acid Allergy and Immunology Cataract Child, Preschool CLPB Endopeptidase Clp - genetics Epilepsy Female Humans Metabolism, Inborn Errors - complications Metabolism, Inborn Errors - genetics Microcephaly Muscle Hypertonia - etiology Mutation Nervous System Diseases - etiology Neutropenia - etiology Severe congenital neutropenia
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