Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1. [electronic resource]
Producer: 20150916Description: 141-7 p. digitalISSN:- 1399-0004
- ATP Binding Cassette Transporter, Subfamily D, Member 1
- ATP-Binding Cassette Transporters -- genetics
- Adrenoleukodystrophy -- genetics
- Adult
- Brain Diseases, Metabolic, Inborn -- genetics
- Child
- Child, Preschool
- Cholestasis, Intrahepatic -- genetics
- Creatine -- deficiency
- Gene Deletion
- Genetic Association Studies
- Humans
- Infant
- Infant, Newborn
- Intellectual Disability -- genetics
- Male
- Membrane Proteins -- genetics
- X-Linked Intellectual Disability -- genetics
- Nerve Tissue Proteins -- genetics
- Phenotype
- Plasma Membrane Neurotransmitter Transport Proteins -- deficiency
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Publication Type: Journal Article
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