Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele

Human Mutation

Volumn 10, Issue 5, 1997, Pages 361-367

  Sukegawa, Kazuko ^a   Song, Xiang Qian ^a   Masuno, Mitsuo ^a   Fukao, Toshiyuki ^a   Shimozawa, Nobuyuki ^a   Fukuda, Seiji ^a   Isogai, Koji ^a   Nishio, Hisahide ^b   Matsuo, Masafumi ^b   Tomatsu, Shunji ^a   Kondo, Naomi ^a   Orii, Tadao ^a,c  

^a GIFU UNIVERSITY   (Japan)

^b KOBE UNIVERSITY   (Japan)

^c Chubu Women's College   (Japan)

Author keywords

Female patient; Hunter disease; Iduronate 2 sulfatase; Mucopolysaccharidosis type II; Skewed inactivation; X chromosome

Indexed keywords

IDURONATE 2 SULFATASE;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; FEMALE; HUMAN; HUNTER SYNDROME; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; X CHROMOSOME INACTIVATION;

ALLELES; ANIMALS; CHILD; CHO CELLS; CRICETINAE; DEOXYRIBONUCLEASE HPAII; DNA METHYLATION; DOSAGE COMPENSATION, GENETIC; FEMALE; GLYCOSAMINOGLYCANS; HUMANS; HYBRID CELLS; IDURONATE SULFATASE; MUCOPOLYSACCHARIDOSIS II;

EID: 16944365805     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:5<361::AID-HUMU5>3.0.CO;2-I     Document Type: Article

References (9)

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