A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VI

Chinese Medical Journal

Volumn 117, Issue 12, 2004, Pages 1850-1852

  Lam, Ching Wan ^a   Chan, Angel On Kei ^b   Lai, Chi Kong ^c   Chan, Wai Hung ^b   Chan, Yan Wo ^c   Shek, Chi Chung ^b   Tong, Sui Fan ^a  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b QUEEN ELIZABETH HOSPITAL   (Hong Kong)

^c PRINCESS MARGARET HOSPITAL   (Hong Kong)

Author keywords

ARSB gene; Mucopolysaccharidosis; Mutation analysis

Indexed keywords

ARYLSULFATASE; GENOMIC DNA;

ARTICLE; CHINESE; DIAGNOSTIC ACCURACY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; MALE; MAROTEAUX LAMY SYNDROME; NONSENSE MUTATION;

CHILD; FEMALE; HUMANS; MALE; MUCOPOLYSACCHARIDOSIS IV; MUTATION; N-ACETYLGALACTOSAMINE-4-SULFATASE;

EID: 11344271245     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

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