Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. [electronic resource]
Producer: 20020627Description: 1520-31 p. digitalISSN:- 0002-9297
- ATP Binding Cassette Transporter, Subfamily D, Member 1
- ATP-Binding Cassette Transporters -- genetics
- Adrenoleukodystrophy -- diagnosis
- Age of Onset
- Chemokine CCL22
- Chemokines, CC -- genetics
- Child
- Child, Preschool
- Exons -- genetics
- Female
- Fibroblasts
- Genetic Complementation Test
- Heterozygote
- Humans
- Infant
- Infant, Newborn
- Infant, Newborn, Diseases -- diagnosis
- Male
- Membrane Proteins -- deficiency
- Peroxisomal Disorders -- diagnosis
- Peroxisomes -- metabolism
- Phenotype
- Prenatal Diagnosis
- Promoter Regions, Genetic -- genetics
- Proteins -- genetics
- Sequence Deletion -- genetics
- Syndrome
- X Chromosome -- genetics
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Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.
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