Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis

European Journal of Medical Genetics

Volumn 57, Issue 7, 2014, Pages 339-344

  Prada, Carlos E ^a,b   Gonzaga Jauregui, Claudia ^c   Tannenbaum, Rebecca ^a   Penney, Samantha ^c,d   Lupski, James R ^c,d,e   Hopkin, Robert J ^a   Sutton, V Reid ^c,d,e  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^b Cardiovascular Foundation of Colombia   (Colombia)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d Centers for Mendelian Genomics   (United States)

^e TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

Exome sequencing; Galactosialidosis; Protective protein cathepsin A

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CLINICAL ASSESSMENT; CTSA GENE; EXOME; FEMALE; GALACTOSIALIDOSIS; GENE; GENE MUTATION; GENE SEQUENCE; GENOMICS; HETEROZYGOSITY; HUMAN; MOLECULAR DIAGNOSIS; PHENOTYPIC VARIATION; RARE DISEASE; YOUNG ADULT; DNA SEQUENCE; GENETICS; LYSOSOMAL STORAGE DISEASES; MUTATION; PROCEDURES; RARE DISEASES;

CARBOXYPEPTIDASE C; CTSA PROTEIN, HUMAN;

ADULT; CATHEPSIN A; EXOME; FEMALE; HUMANS; LYSOSOMAL STORAGE DISEASES; MUTATION; RARE DISEASES; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84902155842     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.04.005     Document Type: Article

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