Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome

American Journal of Medical Genetics

Volumn 120 A, Issue 1, 2003, Pages 84-87

  Ricci, Verena ^a   Filocamo, Mirella ^a   Regis, Stefano ^a   Corsolini, Fabio ^a   Stroppiano, Marina ^a   Di Duca, Marco ^a   Gatti, Rosanna ^a  

^a G GASLINI INSTITUTE   (Italy)

Author keywords

COS cells; Hunter syndrome; Iduronate 2 sulfatase; Mucopolysaccharidosis type II; Transient expression

Indexed keywords

COMPLEMENTARY DNA; IDURONATE 2 SULFATASE; RNA;

ANIMAL CELL; ARTICLE; CASE REPORT; CHROMOSOME XQ; ENZYME ANALYSIS; GENE EXPRESSION; GENE MUTATION; GENETIC COUNSELING; GENETIC TRANSFECTION; HUMAN; HUNTER SYNDROME; LYSOSOME STORAGE DISEASE; MUCOPOLYSACCHARIDOSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SITE DIRECTED MUTAGENESIS; X CHROMOSOME LINKED DISORDER; X CHROMOSOME RECESSIVE DISORDER;

EID: 0041821844     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10215     Document Type: Article

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