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X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism
Ying Wang
, Rachel Busin
, Catherine Reeves
, Lena Bezman
, Gerald Raymond
, Cicely J. Toomer
, Paul A. Watkins
, Ann Snowden
, Ann Moser
, Sakkubai Naidu
, Genila Bibat
, Stacy Hewson
, Karen Tam
, Joe T.R. Clarke
, Lawrence Charnas
, Gail Stetten
, Barbara Karczeski
, Garry Cutting
, Steven Steinberg
Neurology
Pediatrics
Research output
:
Contribution to journal
›
Article
›
peer-review
50
Scopus citations
Overview
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Keyphrases
Mosaicism
100%
X-linked Adrenoleukodystrophy (X-ALD)
100%
ABCD1
100%
De-novo mutations
100%
Long-chain Polyunsaturated Fatty Acids (LC-PUFA)
40%
Molecular Analysis
20%
Pedigree Analysis
20%
Patient Demographics
20%
Germ Cells
20%
Pedigree
20%
Mutation Rate
20%
Biochemical Analysis
20%
Site-directed mutation
20%
Myelin
20%
Adrenal Gland
20%
Testicle
20%
Fatty Acid Composition
20%
Female Carrier
20%
Mutation Analysis
20%
Peroxisomal Disorders
20%
Mutant Alleles
20%
New mutation
20%
Associated Disorders
20%
Kennedy
20%
Rare Occurrence
20%
Grandmothers
20%
Carrier Detection
20%
Ovum
20%
Grandfathers
20%
Gonadal Mosaicism
20%
Gonosomal Mosaicism
20%
Effective Means
20%
Maternal Risk
20%
Biochemistry, Genetics and Molecular Biology
Mosaicism
100%
ABCD1
100%
Adrenoleukodystrophy
100%
Very Long Chain Fatty Acid
33%
Blood Plasma
33%
Pedigree Analysis
16%
Allele
16%
Mutation Rate
16%
Pedigree
16%
Fatty Acid Level
16%
Germ Cell
16%
Myelin
16%