Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein.

Menkes disease is a lethal-X linked recessive disorder associated with copper metabolism disturbance. We have recently mapped two chromosome breakpoints related to this disease in a 1 megabase yeast artificial chromosome contig at Xq13.3. We now report the construction of a phage contig and the isol...

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Dettagli Bibliografici
Autori principali: Chelly, J, Tümer, Z, Tønnesen, T, Petterson, A, Ishikawa-Brush, Y, Tommerup, N, Horn, N, Monaco, A
Natura: Journal article
Lingua:English
Pubblicazione: 1993