CSTBnull mutation associated with microcephaly, early developmental delay, and severe dyskinesia-Reference-Cited by-同舟云学术

CSTBnull mutation associated with microcephaly, early developmental delay, and severe dyskinesia

Published:2016-02-03 Issue:9 Volume:86 Page:877-878
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

Mancini Grazia M.S.,Schot Rachel,de Wit Marie Claire Y.,de Coo René F.,Oostenbrink Rianne,Bindels-de Heus Karen,Berger Lieke P.V.,Lequin Maarten H.,de Vries Femke A.T.,Wilke Martina,van Slegtenhorst Marjon A.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Reference7 articles.

1. Cystatin-like cysteine proteinase inhibitors from human liver

2. Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22.

3. Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)

4. Molecular background of EPM1—Unverricht–Lundborg disease

5. Severer Phenotype in Unverricht-Lundborg Disease (EPM1) Patients Compound Heterozygous for the Dodecamer Repeat Expansion and the c.202C>T Mutation in the CSTB Gene

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