Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. [electronic resource]
- American journal of human genetics Jun 2002
- 1520-31 p. digital
Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.
0002-9297
10.1086/340849 doi
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