Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).
about
What we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseasesAffected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes.Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry.Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems.Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.
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Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 16 June 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Exome sequencing identificatio ...... inocerebellar ataxia (SCA-X1).
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Exome sequencing identificatio ...... -linked spinocerebellar ataxia
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type
label
Exome sequencing identificatio ...... inocerebellar ataxia (SCA-X1).
@en
Exome sequencing identificatio ...... -linked spinocerebellar ataxia
@nl
prefLabel
Exome sequencing identificatio ...... inocerebellar ataxia (SCA-X1).
@en
Exome sequencing identificatio ...... -linked spinocerebellar ataxia
@nl
P2093
P2860
P356
P1476
Exome sequencing identificatio ...... inocerebellar ataxia (SCA-X1).
@en
P2093
Charles K Abrams
Donna M Muzny
Emma L Hackett
James G Colebatch
Matthew N Bainbridge
Melody Caramins
Mona M Freidin
Richard A Gibbs
Robert Lindeman
P2860
P304
P356
10.1093/HMG/DDT282
P577
2013-06-16T00:00:00Z