Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing

Movement Disorders

Volumn 27, Issue 4, 2012, Pages 539-543

  Walker, Ruth H ^a,b   Schulz, Vincent P ^c   Tikhonova, Irina R ^c   Mahajan, Milind C ^c   Mane, Shrikant ^c   Arroyo Muniz, Maritza ^d   Gallagher, Patrick G ^c  

^a VETERANS AFFAIRS MEDICAL CENTER   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF PUERTO RICO   (Puerto Rico)

Author keywords

Chorea; Chorea acanthocytosis; Exome sequencing; Neuroacanthocytosis

Indexed keywords

GENOMIC DNA;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC VALUE; EXOME; EXOME SEQUENCING; EXON; FEMALE; GENE DELETION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; MALE; MOLECULAR DIAGNOSIS; NEUROACANTHOCYTOSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SYMPTOM;

ADULT; EXOME; FEMALE; GENETIC HETEROGENEITY; GENETIC TESTING; HUMANS; MALE; MIDDLE AGED; MUTATION; NEUROACANTHOCYTOSIS; SEQUENCE ANALYSIS, DNA; VESICULAR TRANSPORT PROTEINS;

EID: 84859383165     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.24020     Document Type: Article

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