Metabolic cutis laxa syndromes. [electronic resource]
Producer: 20111202Description: 907-16 p. digitalISSN:- 1573-2665
- Carrier Proteins -- genetics
- Congenital Disorders of Glycosylation -- classification
- Cutis Laxa -- diagnosis
- Guanine Nucleotide Exchange Factors -- deficiency
- Humans
- Menkes Kinky Hair Syndrome -- diagnosis
- Metabolic Networks and Pathways -- genetics
- Models, Biological
- Ornithine-Oxo-Acid Transaminase -- deficiency
- Pyrroline Carboxylate Reductases -- deficiency
- Syndrome
- delta-1-Pyrroline-5-Carboxylate Reductase
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Publication Type: Journal Article; Review
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