Chondroitin beta-1,4-N-acetylgalactosaminyltransferase-1 missense mutations are associated with neuropathies

Journal of Human Genetics

Volumn 56, Issue 2, 2011, Pages 143-146

  Saigoh, Kazumasa ^a   Izumikawa, Tomomi ^b   Koike, Toshiyasu ^b   Shimizu, Jun ^c   Kitagawa, Hiroshi ^b   Kusunoki, Susumu ^a  

^a KINKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KOBE PHARMACEUTICAL UNIVERSITY   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

Author keywords

ChGn 1; chondroitin GalNAcT I; chondroitin GalNAcT II; mutation; neuropathy

Indexed keywords

CHONDROITIN BETA 1,4 N ACETYLGALACTOSAMINYLTRANFERASE 1; DNA; GLUCOSYLTRANSFERASE; MUTANT PROTEIN; TRANSFERASE; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; BELL PALSY; CELL CULTURE; CHGN 1 GENE; CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY; CONTROLLED STUDY; ENZYME ACTIVITY; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC TRANSFECTION; GUILLAIN BARRE SYNDROME; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONHUMAN; PROTEIN PURIFICATION; WESTERN BLOTTING;

ANIMALS; CASE-CONTROL STUDIES; CERCOPITHECUS AETHIOPS; COS CELLS; DEMYELINATING DISEASES; GUILLAIN-BARRE SYNDROME; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HUMANS; MUTATION, MISSENSE; N-ACETYLGALACTOSAMINYLTRANSFERASES; PERIPHERAL NERVOUS SYSTEM DISEASES; POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING;

EID: 79952127774     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2010.148     Document Type: Article

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