Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population

Journal of Human Genetics

Volumn 45, Issue 5, 2000, Pages 315-317

  Ogawa, A ^a   Yamamoto, S ^a   Kanazawa, M ^a   Ogawa, E ^a,b   Takayanagi, M ^b   Hasegawa, S ^c   Kohno, Y ^a  

^a CHIBA UNIVERSITY   (Japan)

^b CHIBA CHILDREN'S HOSPITAL   (Japan)

^c Chiba City Institute of Health and Environment   (Japan)

Author keywords

ATP7A gene; Menkes disease; MNK gene; Mutation; Polymorphism

Indexed keywords

ARTICLE; CASE REPORT; CHILD; DNA POLYMORPHISM; DNA SEQUENCE; GENOTYPE; HUMAN; JAPAN; MALE; MENKES SYNDROME; NONSENSE MUTATION; PHENOTYPE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; X CHROMOSOME RECESSIVE DISORDER;

EID: 0033776832     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380070024     Document Type: Article

References (9)

1. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein
2. Diverse mutations in patients with Menkes disease often lead to exon skipping
3. A sex-linked disorder with retardation of growth, peculiar hair and focal cerebral and cerebellar degeneration
4. Isolation of a partial candidate gene for Menkes disease by positional cloning
5. Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease
6. An Ile/Val polymorphism at codon 1464 of the ATP7A gene
7. The Wilson disease gene: Spectrum of mutations and their consequences
8. Identification of point mutations in 41 unrelated patients affected with Menkes disease
9. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase