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Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry
by
Protasova, Maria S
,
Grigorenko, Anastasia P
,
Tyazhelova, Tatiana V
,
Andreeva, Tatiana V
,
Reshetov, Denis A
,
Gusev, Fedor E
,
Laptenko, Alexander E
,
Kuznetsova, Irina L
,
Goltsov, Andrey Y
,
Klyushnikov, Sergey A
,
Illarioshkin, Sergey N
,
Rogaev, Evgeny I
Published in
European journal of human genetics : EJHG
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European Journal Of Human Genetics
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European Journal Of Human Genetics : Ejhg
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Adenosine Triphosphatases - Genetics
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Adult
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Anemia
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Ataxia
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Atp-Binding Cassette Transporters - Genetics
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Atp7A Protein
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Atrophy
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B7 Antigen
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Biochemistry & Molecular Biology
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Bioinformatics
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Brain Research
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Cation Transport Proteins - Genetics
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Cell Adhesion & Migration
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Cerebellar Ataxia
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Cerebellum
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Child
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Children
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Chromosome Deletion
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Clonal Deletion
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Congenital Diseases
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