Further cases of "neighbor" mutations in mucopolysaccharidosis type II [2]

American Journal of Medical Genetics, Part A

Volumn 140, Issue 15, 2006, Pages 1684-1686

  Schwartz, Ida V D ^a,b   Lima, Luciane C ^b   Tylee, Karen ^c   Oliveira Sobrinho, Ruy P ^d   Norato, Denise Y J ^d   Duarte, Andréa R ^e   Besley, Guy ^c   Burin, Maira G ^b   Matte, Ursula ^b   Giugliani, Roberto ^a,b   Leistner Segal, Sandra ^b  

^a FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^b HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^c ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^d UNIVERSITY OF CAMPINAS   (Brazil)

^e INSTITUTO DE MEDICINA INTEGRAL PROF FERNANDO FIGUEIRA   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOSAMINOGLYCAN; IDURONATE 2 SULFATASE;

ALLELE; AORTA VALVE REGURGITATION; CASE REPORT; CLINICAL FEATURE; COARSE FACE; CODON; COUGHING; DNA FLANKING REGION; EXON; GASTROESOPHAGEAL REFLUX; GENE; GENETIC ANALYSIS; HEPATOSPLENOMEGALY; HUMAN; HUNTER SYNDROME; HURLER SYNDROME; HYPERACTIVITY; IDS GENE; INTRON; LETTER; MALE; MISSENSE MUTATION; MITRAL VALVE REGURGITATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SYMPTOM; TRICUSPID VALVE REGURGITATION; WALKING DIFFICULTY;

CHILD; CHILD, PRESCHOOL; CODON; EXONS; HUMANS; IDURONATE SULFATASE; MALE; MUCOPOLYSACCHARIDOSIS II; MUTATION; PHENOTYPE;

EID: 33746636827     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31317     Document Type: Letter

References (14)

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