Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II

Clinical Genetics

Volumn 81, Issue 2, 2012, Pages 185-190

  Sohn, Y B ^a   Ki, C S ^a   Kim, C H ^b   Ko, A R ^b   Yook, Y J ^b   Lee, S J ^b   Kim, S J ^c   Park, S W ^a   Yeau, S ^d   Kwon, E K ^a   Han, S J ^a   Choi, E W ^b   Lee, S Y ^a   Kim, J W ^a   Jin, D K ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Samsung Medical Center   (South Korea)

^c National Cancer Center   (South Korea)

^d Ewha Womans University   (South Korea)

Author keywords

Gene; Hunter syndrome; IDS; Iduronate 2 sulfatase; Mucopolysaccharidosis type II; Mutation

Indexed keywords

ARTICLE; CLINICAL ARTICLE; DNA SPLICING; GENE DELETION; GENE IDENTIFICATION; GENE INSERTION; HUMAN; HUMAN CELL; HUNTER SYNDROME; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL;

ASIAN CONTINENTAL ANCESTRY GROUP; HUMANS; IDURONATE SULFATASE; MUCOPOLYSACCHARIDOSIS II; MUTATION; MUTATION RATE; PHENOTYPE; REPUBLIC OF KOREA;

EID: 84855970343     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01641.x     Document Type: Article

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