Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients

Journal of Human Genetics

Volumn 57, Issue 9, 2012, Pages 613-617

  Dezfouli, Mitra Ansari ^a   Yadegari, Samira ^b   Nafissi, Shahriar ^b   Elahi, Elahe ^a  

^a UNIVERSITY OF TEHRAN   (Iran)

^b TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

Brown Vialetto Van Laere syndrome; C20orf54; mutation screening; neurodegenerative disorders; pontobulbar palsy

Indexed keywords

AMINO ACID;

ADULT; ARTICLE; BROWN VIALETTO VAL LAERE SYNDROME; CASE REPORT; DEGENERATIVE DISEASE; FEMALE; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC VARIABILITY; HUMAN; PERCEPTION DEAFNESS; PONTOBULBAR PALSY;

ADOLESCENT; ALLELES; AMINO ACID SEQUENCE; BASE SEQUENCE; BULBAR PALSY, PROGRESSIVE; CHILD; CONSERVED SEQUENCE; FEMALE; GENE ORDER; GENOTYPE; HEARING LOSS, SENSORINEURAL; HUMANS; MEMBRANE TRANSPORT PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; SEQUENCE ALIGNMENT; YOUNG ADULT;

EID: 84866866477     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2012.70     Document Type: Article

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