M.S. Protasova

The Identification of the Genetic Cause of the Cerebellar Hypoplasia Disorder

Submitted by Root Addmin on Tue, 2015-12-01 17:02

INTRODUCTION

Attachment	Size
10.20388omp2015.00s1.003.pdf	296.59 KB

Abstract

To identified genetic cause of congenital hypoplasia cerebellum in two families with different syndromes high- throughput sequencing analysis was performed. X-linked non-progressive ataxia in first family from Mongolian ancestry was caused by genetic defects in ABCB7 gene and modifying by ATP7A gene.

M.S. Protasova
A.P. Grigorenko
T.V. Tyazhelova
T.V. Andreeva
D.A. Reshetov
F.E. Gusev
I.L. Kuznetsova
A.Y.Goltsov
S.A. Klyushnikov
S.N. Illarioshkin
E.I. Rogaev

Cerebellar hypoplasia/atrophy
congenital ataxia
disequilibrium syndrome
ABCB7

Read more about The Identification of the Genetic Cause of the Cerebellar Hypoplasia Disorder

Search form

You are here

M.S. Protasova

The Identification of the Genetic Cause of the Cerebellar Hypoplasia Disorder

Abstract

Popular Articles