Brother/sister siblings affected with Hunter disease: Evidence for skewed X chromosome inactivation

Clinical Genetics

Volumn 53, Issue 2, 1998, Pages 96-101

  Sukegawa, Kazuko ^a   Matsuzaki, Tetuo ^b   Fukuda, Seiji ^a   Masuno, Mitsuo ^a   Fukao, Toshiyuki ^a   Kokuryu, Mie ^a   Iwata, Shoko ^a   Tomatsu, Shunji ^a   Orii, Tadao ^a,c   Kondo, Naomi ^a  

^a GIFU UNIVERSITY   (Japan)

^b NAGASAKI UNIVERSITY   (Japan)

^c CHUBU GAKUIN UNIVERSITY   (Japan)

Author keywords

Female patient; Hunter disease; Mucoplysaccharidosis type II; X chromosome inactivation

Indexed keywords

COMPLEMENTARY DNA; IDURONATE 2 SULFATASE;

ARTICLE; CASE REPORT; CHILD; FEMALE; FIBROBLAST; HETEROZYGOTE; HUMAN; HUNTER SYNDROME; LYMPHOCYTE; MALE; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; PRIORITY JOURNAL; SCHOOL CHILD; SIBLING; X CHROMOSOME INACTIVATION;

RAPHIA FRATER;

EID: 0031968340     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1998.tb02654.x     Document Type: Article

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