β-glucuronidase P408S, P415L mutations: Evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients

Human Genetics

Volumn 98, Issue 3, 1996, Pages 281-284

  Islam, M Rafiqul ^a   Vervoort, Raf ^b   Lissens, Willy ^b   Hoo, Joe J ^c   Valentine, Leonard A ^d   Sly, William S ^a  

^a SAINT LOUIS UNIVERSITY   (United States)

^b UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^c SUNY UPSTATE MEDICAL UNIVERSITY   (United States)

^d Rush Children's Hospital and Rush University Medical Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLUCURONIDASE;

ARTICLE; CASE REPORT; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEGRADATION; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MEXICO; MUCOPOLYSACCHARIDOSIS TYPE 7; POINT MUTATION; PRIORITY JOURNAL;

ANIMALS; BASE SEQUENCE; CELL LINE; DNA PRIMERS; FEMALE; GLUCURONIDASE; HUMANS; INFANT, NEWBORN; MEXICO; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS VII; MUTAGENESIS, SITE-DIRECTED; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0029757644     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050207     Document Type: Article

References (8)

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3. Knitter MR, Dirks S, Haas IG (1995) Molecular chaperone involved in protein degradation in the endoplasmic reticulum. Proc Natl Acad Sci USA 92: 1764-1768
4. Shipley JM, Klinkenberg M, Wu BM, Bachinsky DR, Grubb JH, Sly WS (1993) Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes. Am J Hum Genet 52: 517-526
5. Sly WS, Quinton BA, McAlister WH, Rimoin DL (1973) Beta-glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis. J Pediatr 82: 249-257
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