Corzo, Deyanira

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