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Volumn 137 A, Issue 3, 2005, Pages 235-240

Missense mutations in N-acetylglucosamine-1-phosphotransferase α/β subunit gene in a patient with mucolipidosis III and a mild clinical phenotype

Author keywords

Cathepsin D; Lysosomal storage disorders; Mucolipidosis type III; Phosphotransferase; Pseudo Hurler polydystrophy

Indexed keywords

CATHEPSIN D; GLYCOSAMINOGLYCAN; LYSOSOME ENZYME; MANNOSE 6 PHOSPHATE; MESSENGER RNA; N ACETYLGLUCOSAMINE 1 PHOSPHOTRANSFERASE; OLIGOSACCHARIDE; PHOSPHOTRANSFERASE; UNCLASSIFIED DRUG;

EID: 24344503012     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30868     Document Type: Article
Times cited : (45)

References (23)
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.