Mucopolysaccharidosis type II: An update on mutation spectrum

Acta Paediatrica, International Journal of Paediatrics

Volumn 96, Issue SUPPL. 455, 2007, Pages 71-77

  Froissart, Roseline ^a   Da Silva, Isabel Moreira ^b   Maire, Irène ^a  

^a HÔPITAL DEBROUSSE   (France)

^b RESEARCH INSTITUTE FOR MEDICINES IMED ULISBOA   (Portugal)

Author keywords

De novo mutations; Mosaicism; Mucopolysaccharidosis type II; Mutations

Indexed keywords

IDURONATE 2 SULFATASE;

CONFERENCE PAPER; CRYSTAL STRUCTURE; CRYSTALLOGRAPHY; ENVIRONMENTAL FACTOR; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE FREQUENCY; GENE INSERTION; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUNTER SYNDROME; MAJOR CLINICAL STUDY; MALE; MEIOSIS; MISSENSE MUTATION; MOSAICISM; MOTHER; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRIORITY JOURNAL; PROGNOSIS; SINGLE NUCLEOTIDE POLYMORPHISM; STRUCTURE ANALYSIS;

FEMALE; GENOTYPE; HUMANS; INHERITANCE PATTERNS; MALE; MUCOPOLYSACCHARIDOSIS II; MUTATION; PEDIGREE; PHENOTYPE;

EID: 33947578019     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2007.00213.x     Document Type: Conference Paper

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