Identification of A Novel SBF2 Frameshift Mutation in Charcot-Marie-Tooth Disease Type 4B2 Using Whole-exome Sequencing

Genomics, Proteomics and Bioinformatics

Volumn 12, Issue 5, 2014, Pages 221-227

  Chen, Meiyan ^a   Wu, Jing ^a   Liang, Ning ^c   Tang, Lihui ^a   Chen, Yanhua ^a   Chen, Huishuang ^a   Wei, Wei ^a   Wei, Tianying ^b   Huang, Hui ^a   Yi, Xin ^a   Qi, Ming ^a,b,d  

^a BGI SHENZHEN   (China)

^b ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

^c CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^d UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

Author keywords

Charcot Marie Tooth disease; Early onset glaucoma; SBF2; Whole exome sequencing

Indexed keywords

GENOMIC DNA; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE; SBF2 PROTEIN, HUMAN;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BIOINFORMATICS; CASE REPORT; CESAREAN SECTION; CHARCOT MARIE TOOTH DISEASE TYPE 4B2; CHROMOSOME 11; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DEMYELINATING NEUROPATHY; ELECTROMYOGRAPHY; EXOME; FAMILY HISTORY; FATHER; FEMALE; FOOT MALFORMATION; FRAMESHIFT MUTATION; GENE; GENOME ANALYSIS; GLAUCOMA; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INDEL MUTATION; LIMB WEAKNESS; MALE; MISSENSE MUTATION; MOTHER; MUTATIONAL ANALYSIS; NERVE CONDUCTION; NERVE POTENTIAL; NEUROLOGIC GAIT DISORDER; NEXT GENERATION SEQUENCING; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PARENT; PATHOGENESIS; PMP22 GENE; SBF2 GENE; SENSORIMOTOR NEUROPATHY; SINGLE NUCLEOTIDE POLYMORPHISM; SPLICING DEFECT; GENETICS; HIGH THROUGHPUT SEQUENCING; NUCLEOTIDE SEQUENCE; PEDIGREE; PRESCHOOL CHILD; PROCEDURES;

ADOLESCENT; CHARCOT-MARIE-TOOTH DISEASE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; FRAMESHIFT MUTATION; GLAUCOMA; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; PEDIGREE; PROTEIN TYROSINE PHOSPHATASES, NON-RECEPTOR;

EID: 84922563742     PISSN: 16720229     EISSN: 22103244     Source Type: Journal    
DOI: 10.1016/j.gpb.2014.09.003     Document Type: Article

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