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Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening
Lena Bezman
, Ann B. Moser
, Gerald V. Raymond
, Piero Rinaldo
, Paul A. Watkins
, Kirby D. Smith
, Nancy E. Kass
, Hugo W. Moser
Research output
:
Contribution to journal
›
Article
›
peer-review
305
Scopus citations
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Dive into the research topics of 'Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening'. Together they form a unique fingerprint.
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Keyphrases
Adrenoleukodystrophy
100%
Mutation Rate
100%
Extended Family
100%
Family Screening
100%
New mutation
100%
X-linked
75%
Heterozygote
75%
United States
50%
Diagnostic Test
50%
At-risk
50%
Mayo Clinic
25%
Rochester
25%
Pedigree
25%
Genetic Counseling
25%
Disease Prevention
25%
Long-chain Polyunsaturated Fatty Acids (LC-PUFA)
25%
Proband
25%
Immunofluorescence Assay
25%
Mutation Analysis
25%
Success Probability
25%
Kennedy
25%
Minimum Frequency
25%
At-risk Relatives
25%
Family Testing
25%
Agricultural and Biological Sciences
Very Long Chain Fatty Acid
100%
Relative Risk
100%
Pedigree
100%
Blood Plasma
100%
Adrenoleukodystrophy
100%
Immunofluorescence
100%