Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small in-frame deletion

Biochemical and Molecular Medicine

Volumn 57, Issue 1, 1996, Pages 37-46

  Kaler, Stephen G ^a,b,d   Das, Soma ^e   Levinson, Barbara ^e   Goldstein, David S ^b   Holmes, Courtney S ^b   Patronas, Nicholas J ^c   Packman, Seymour ^e   Gahl, William A ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^c PET Department   (United States)

^d GEORGE WASHINGTON UNIVERSITY   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COPPER; GENE PRODUCT;

ARTICLE; BRAIN GROWTH; DEGENERATIVE DISEASE; DEMYELINATION; ENZYME ACTIVITY; FETUS; FRAMESHIFT MUTATION; GENE DELETION; HUMAN; MENKES SYNDROME; NERVE CELL DIFFERENTIATION; NERVE DEGENERATION; RECESSIVE INHERITANCE; X CHROMOSOME LINKAGE;

RAPHIA FRATER;

EID: 0030002098     PISSN: 10773150     EISSN: None     Source Type: Journal    
DOI: 10.1006/bmme.1996.0007     Document Type: Article

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