Molecular and phenotypic variation in patients with severe Hunter syndrome

Human Molecular Genetics

Volumn 6, Issue 3, 1997, Pages 479-486

  Timms, Kirsten M ^a   Bondeson, Marie Louise ^b   Ansari Lari, M Ali ^a   Lagerstedt, Kristina ^b   Muzny, Donna M ^a   Dugan Rocha, Shannon P ^a   Nelson, David L ^a   Pettersson, Ulf ^b   Gibbs, Richard A ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UPPSALA UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

IDURONATE 2 SULFATASE;

ARTICLE; CASE REPORT; DELETION MUTANT; DNA SEQUENCE; ENZYME DEFICIENCY; GENE REARRANGEMENT; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HUNTER SYNDROME; LYSOSOME STORAGE DISEASE; MOLECULAR GENETICS; PHENOTYPE; PRIORITY JOURNAL; PSEUDOGENE; PTOSIS; SEIZURE; SLEEP APNEA SYNDROME; X CHROMOSOME LINKAGE;

CHROMOSOME MAPPING; CLONING, MOLECULAR; ELECTROPHORESIS, AGAR GEL; GENE DELETION; GENE EXPRESSION; GENE REARRANGEMENT; HUMANS; IDURONATE SULFATASE; MALE; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS II; NUCLEAR PROTEINS; PHENOTYPE; POLYMERASE CHAIN REACTION; PROTEINS; PSEUDOGENES; RECOMBINATION, GENETIC; SEIZURES; TRANS-ACTIVATORS; X CHROMOSOME;

EID: 0031044151     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.3.479     Document Type: Article

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