Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome.

Biochemistry, Genetics and Molecular Biology

• Phenotype 100%
• Copper 100%
• Copper Metabolism 100%
• Copper Toxicity 100%
• Mutation 50%
• Protein Complexes 50%
• Fibroblast 50%
• Loss of Function Mutation 50%
• Mental Retardation 50%
• Hybrid 50%
• Copper Deficiency 50%
• Copper Blood Level 50%
• Ceruloplasmin Blood Level 50%
• Menkes Disease 50%
• ATP7A 50%