Novel mutations in Sanfilippo A syndrome: Implications for enzyme function

Human Molecular Genetics

Volumn 6, Issue 9, 1997, Pages 1573-1579

  Weber, Birgit ^a   Guo, Xiao Hui ^a   Wraith, J Ed ^b   Cooper, Alan ^b   Kleijer, Wim J ^c   Bunge, Susanna ^d   Hopwood, John J ^a  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMIDASE; HYDROLASE; N ACETYLGALACTOSAMINE 6 SULFATASE; SULFAMIDASE; UNCLASSIFIED DRUG;

ARTICLE; ASIA; AUSTRALIA; CHILD; CONTROLLED STUDY; DELETION MUTANT; ENZYME ACTIVE SITE; FETUS; GENE INSERTION; GENE MUTATION; HUMAN; HUMAN CELL; INFANT; MISSENSE MUTATION; NETHERLANDS; NONSENSE MUTATION; PRIORITY JOURNAL; SANFILIPPO SYNDROME; SEQUENCE HOMOLOGY; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0030846848     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.9.1573     Document Type: Article

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