Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations

American Journal of Medical Genetics, Part A

Volumn 164, Issue 6, 2014, Pages 1443-1453

  Kantaputra, Piranit Nik ^a,b   Kayserili, Hulya ^c   Guven, Yeliz ^d   Kantaputra, Warissara ^b   Balci, Mehmet C ^c   Tanpaiboon, Pranoot ^e   Tananuvat, Napaporn ^f   Uttarilli, Anusha ^g   Dalal, Ashwin ^g  

^a CHIANG MAI UNIVERSITY   (Thailand)

^b Dentaland Clinic   (Thailand)

^c ISTANBUL UNIVERSITY   (Turkey)

^d ISTANBUL UNIVERSITY   (Turkey)

^e CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^f Faculty of Medicine Chiang Mai University   (Thailand)

^g CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS   (India)

Author keywords

ARSB; Dermatan sulfate; Genotype phenotype correlation; Hoarse voice; Large ear lobule; Maroteaux Lamy syndrome; MPS VI

Indexed keywords

ASPARTIC ACID; CYSTEINE; GLUTAMIC ACID; LEUCINE; LYSINE; PROLINE; SERINE; TRYPTOPHAN; VALINE; ARYLSULFATASE B, HUMAN; MICROSATELLITE DNA; N ACETYLGALACTOSAMINE 4 SULFATASE;

ADOLESCENT; ADULT; ARSB GENE; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; CONTROLLED STUDY; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; HAPLOTYPE; HOMOZYGOSITY; HUMAN; INDIA; INDIAN; MALE; MAROTEAUX LAMY SYNDROME; MISSENSE MUTATION; MOLECULAR GENETICS; PRIORITY JOURNAL; SCHOOL CHILD; THAILAND; TURKEY (REPUBLIC); CHROMOSOME MAP; EPIDEMIOLOGY; GENETICS; IRAQ; MUCOPOLYSACCHARIDOSIS VI; MULTIPLE MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; PATHOLOGY; PROTEIN FOLDING; PROTEOSTASIS DEFICIENCY; TURKEY; YOUNG ADULT;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; HAPLOTYPES; HUMANS; INDIA; IRAQ; MALE; MICROSATELLITE REPEATS; MUCOPOLYSACCHARIDOSIS VI; MUTATION, MISSENSE; N-ACETYLGALACTOSAMINE-4-SULFATASE; PROTEIN FOLDING; PROTEOSTASIS DEFICIENCIES; TURKEY; YOUNG ADULT;

EID: 84899952631     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36489     Document Type: Article

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