Exomesequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1)

Human Molecular Genetics

Volumn 22, Issue 21, 2013, Pages 4329-4338

  Caramins, Melody ^a   Colebatch, James G ^b,c   Bainbridge, Matthew N ^d   Scherer, Steven S ^e   Abrams, Charles K ^f   Hackett, Emma L ^a   Freidin, Mona M ^f   Jhangiani, Shalini N ^d   Wang, Min ^d   Wu, Yuanqing ^d   Muzny, Donna M ^d   Lindeman, Robert ^a   Gibbs, Richard A ^d  

^a New South Wales Government   (Australia)

^b PRINCE OF WALES HOSPITAL   (Australia)

^c NEUROSCIENCE RESEARCH AUSTRALIA   (Australia)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

^f SUNY DOWNSTATE MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 32; GAP JUNCTION PROTEIN; PROLINE; SERINE;

ARTICLE; CLINICAL EXAMINATION; COMPARATIVE GENOMIC HYBRIDIZATION; EXOME; GAP JUNCTION; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCUS; GENE SEQUENCE; GENETIC TRANSFECTION; GENETIC VARIABILITY; HAPLOTYPE; IN VITRO STUDY; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION; X CHROMOSOME LINKED DISORDER; DNA SEQUENCE; FEMALE; GENETIC SCREENING; GENETICS; HELA CELL LINE; HUMAN; MALE; METABOLISM; MOLECULAR EVOLUTION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PHYLOGENY; SEQUENCE ALIGNMENT; SPINOCEREBELLAR ATAXIAS; X CHROMOSOMAL INHERITANCE; X CHROMOSOME; HELA CELL;

BASE SEQUENCE; CHROMOSOMES, HUMAN, X; CONNEXINS; EVOLUTION, MOLECULAR; EXOME; FEMALE; GENES, X-LINKED; GENETIC TESTING; GENETIC VARIATION; HELA CELLS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PHYLOGENY; PROLINE; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; SERINE; SPINOCEREBELLAR ATAXIAS;

EID: 84885769620     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt282     Document Type: Article

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