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Volumn 102, Issue 2, 2001, Pages 146-148
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Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis
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Author keywords
FISH analysis; Steroid sulfatase; STS gene; X linked ichthyosis; X linked ichthyosis carriers
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Indexed keywords
STERYL SULFATASE;
ADOLESCENT;
ARTICLE;
CHILD;
CLINICAL ARTICLE;
DNA FLANKING REGION;
FLUORESCENCE IN SITU HYBRIDIZATION;
GENE DELETION;
GENE ISOLATION;
GENE MUTATION;
GENETIC ANALYSIS;
HETEROZYGOTE;
HUMAN;
ICHTHYOSIS;
INBORN ERROR OF METABOLISM;
MALE;
POINT MUTATION;
PRIORITY JOURNAL;
ARYLSULFATASES;
FAMILY HEALTH;
FEMALE;
HETEROZYGOTE DETECTION;
HUMANS;
ICHTHYOSIS, X-LINKED;
IN SITU HYBRIDIZATION, FLUORESCENCE;
MALE;
STERYL-SULFATASE;
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EID: 0035425950
PISSN: 01487299
EISSN: None
Source Type: Journal
DOI: 10.1002/ajmg.1450 Document Type: Article |
Times cited : (21)
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References (23)
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