Clinical and molecular analysis of a Japanese boy with Morquio B disease

Clinical Genetics

Volumn 48, Issue 2, 1995, Pages 103-108

  Ishii, Nozomi ^a,b,c   Oohira, Takahiko ^d   Oshima, Akihiro ^a   Sakuraba, Hitoshi ^a   Endo, Fumio ^e   Matsuda, Ichiro ^e   Sukegawa, Kazuko ^f   Orii, Tadao ^f   Suzuki, Yoshiyuki ^a  

^a TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^b TOKYO METROPOLITAN KOMAGOME HOSPITAL   (Japan)

^c TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^d Yatsushiro General Hospital   (Japan)

^e KUMAMOTO UNIVERSITY   (Japan)

^f GIFU UNIVERSITY   (Japan)

Author keywords

gene mutation; keratan sulfate; Morquio B disease; galactosidase

Indexed keywords

BETA GALACTOSIDASE; KERATAN SULFATE; MUTANT PROTEIN;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; BONE DYSPLASIA; CASE REPORT; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FIBROBLAST; HUMAN; HUMAN CELL; MALE; MORQUIO SYNDROME; PRIORITY JOURNAL; URINARY EXCRETION;

ADOLESCENT; BASE SEQUENCE; BETA-GALACTOSIDASE; BONE AND BONES; CASE REPORT; HUMAN; JAPAN; MALE; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS IV; MUTATION; POLYMERASE CHAIN REACTION; SUPPORT, NON-U.S. GOV'T;

EID: 0029121851     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1995.tb04065.x     Document Type: Article

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