A novel frameshift mutation in exon 23 of ATP7a (MNK) results in occipital horn syndrome and not in Menkes disease

American Journal of Human Genetics

Volumn 69, Issue 2, 2001, Pages 420-427

  Dagenais, S L ^a   Adam, A N ^a   Innis, J W ^a   Glover, T W ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; COPPER DEFICIENCY; EXON; FRAMESHIFT MUTATION; GENE LOCATION; HUMAN; MENKES SYNDROME; NUCLEOTIDE SEQUENCE; OCCIPITAL HORN SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SYNDROME; X CHROMOSOME LINKED DISORDER;

EID: 0034926276     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/321290     Document Type: Article

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