Prediction of the clinical phenotype of Fabry disease based on protein sequential and structural information

Journal of Human Genetics

Volumn 55, Issue 3, 2010, Pages 175-178

  Saito, Seiji ^a   Ohno, Kazuki ^b,e   Sese, Jun ^c   Sugawara, Kanako ^d   Sakuraba, Hitoshi ^d  

^a UNIVERSITY OF TOKYO   (Japan)

^b NPO for the Promotion of Research on Intellectual Property Tokyo   (Japan)

^c OCHANOMIZU UNIVERSITY   (Japan)

^d MEIJI PHARMACEUTICAL UNIVERSITY   (Japan)

^e ASTELLAS PHARMA INC   (Japan)

Author keywords

Amino acid substitution; Fabry disease; Phenotype prediction; Protein structure; galactosidase

Indexed keywords

ALPHA GALACTOSIDASE;

ARTICLE; CONTROLLED STUDY; CORRELATION COEFFICIENT; FABRY DISEASE; GENE SEQUENCE; GENE STRUCTURE; GENETIC ANALYSIS; MISSENSE MUTATION; PHENOTYPE; BIOLOGICAL MODEL; CHEMISTRY; DECISION TREE; ENZYMOLOGY; GENETIC DATABASE; GENETICS; HUMAN; MUTATION; PATHOLOGY; SEQUENCE ANALYSIS;

ALPHA-GALACTOSIDASE; DATABASES, GENETIC; DECISION TREES; FABRY DISEASE; HUMANS; MODELS, GENETIC; MUTATION; PHENOTYPE; SEQUENCE ANALYSIS, PROTEIN;

EID: 77950200613     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2010.5     Document Type: Article

References (10)

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