Mucopolysaccharidosis type VI: A predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene

American Journal of Medical Genetics, Part A

Volumn 161, Issue 6, 2013, Pages 1291-1299

  Jurecka, Agnieszka ^a,b   Zakharova, Ekaterina ^c   Cimbalistiene, Loreta ^d   Gusina, Nina ^e   Kulpanovich, Anna ^e   Golda, Adam ^f   Opoka Winiarska, Violetta ^g   Piotrowska, Ewa ^a   Voskoboeva, Elena ^c   Tylki Szymańska, Anna ^b  

^a UNIVERSITY OF GDA SK   (Poland)

^b CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^c RESEARCH CENTRE FOR MEDICAL GENETICS   (Russian Federation)

^d VILNIUS UNIVERSITY   (Lithuania)

^e Institute for Hereditary Diseases   (Belarus)

^f Department of Cardiology   (Poland)

^g MEDICAL UNIVERSITY OF LUBLIN   (Poland)

Author keywords

Attenuated phenotype; Cardiac valve disease; Cardiac variant; Genotype phenotype analysis; Maroteaux lamy syndrome

Indexed keywords

ADULT; ARSB GENE; ARTICLE; CAUSE OF DEATH; CLINICAL ARTICLE; CLINICAL FEATURE; CROSS-SECTIONAL STUDY; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GROWTH RETARDATION; HEART FAILURE; HOMOZYGOSITY; HUMAN; HUNTER SYNDROME; MALE; MUTATIONAL ANALYSIS; MUTATOR GENE; OBSERVATIONAL STUDY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; RANGE OF MOTION; VALVULAR HEART DISEASE; ADOLESCENT; AMINO ACID SUBSTITUTION; COHORT ANALYSIS; DEMOGRAPHY; EUROPE; GENE FREQUENCY; GENETIC ASSOCIATION STUDY; GENETIC POLYMORPHISM; GENETICS; HEART VALVE; HOMOZYGOTE; MUCOPOLYSACCHARIDOSIS VI; MUTATION; PATHOPHYSIOLOGY; RUSSIAN FEDERATION; YOUNG ADULT;

ARYLSULFATASE B, HUMAN; N ACETYLGALACTOSAMINE 4 SULFATASE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; COHORT STUDIES; CROSS-SECTIONAL STUDIES; DEMOGRAPHY; EUROPE; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; HEART FAILURE; HEART VALVES; HOMOZYGOTE; HUMANS; MALE; MOSCOW; MUCOPOLYSACCHARIDOSIS VI; MUTATION; N-ACETYLGALACTOSAMINE-4-SULFATASE; PHENOTYPE; POLYMORPHISM, GENETIC; YOUNG ADULT;

EID: 84878225021     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35905     Document Type: Article

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