Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing

Journal of Medical Genetics

Volumn 35, Issue 8, 1998, Pages 646-649

  Timms, Kirsten M ^a,c   Edwards, Faye J ^a   Belmont, John W ^a   Yates, John R W ^b   Gibbs, Richard A ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c Myriad Genetic Laboratories   (United States)

Author keywords

Carrier analysis; Hunter syndrome; Iduronate 2 sulphatase

Indexed keywords

IDURONATE 2 SULFATASE; NUCLEOTIDE; PRIMER DNA;

ARTICLE; CASE REPORT; DNA DETERMINATION; ENZYME ASSAY; EXON; FEMALE; HETEROZYGOTE; HUMAN; HUNTER SYNDROME; LYSOSOME STORAGE DISEASE; MALE; MISSENSE MUTATION; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; X CHROMOSOME RECESSIVE INHERITANCE;

EID: 0031851492     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.8.646     Document Type: Article

References (20)

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