Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease

Journal of Human Genetics

Volumn 44, Issue 3, 1999, Pages 206-209

  Ogawa, Atsushi ^a   Yamamoto, Shigenori ^a   Takayanagi, Masaki ^b   Kogo, Toshiaki ^a,c   Kanazawa, Masaki ^a,c   Kohno, Yoichi ^a  

^a CHIBA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b CHIBA CHILDREN'S HOSPITAL   (Japan)

^c SHIMOSHIZU HOSPITAL   (Japan)

Author keywords

ATP7A; Japanese; Menkes disease; MNK gene; Mutation

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ARGININE; CERULOPLASMIN; COPPER; LEUCINE; MENKES PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; COPPER BLOOD LEVEL; DNA SEQUENCE; GENE INSERTION; GENE MUTATION; HUMAN; HUMAN CELL; JAPAN; MEMBRANE TRANSPORT; MENKES SYNDROME; POINT MUTATION; PROTEIN SECONDARY STRUCTURE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SKIN FIBROBLAST; X CHROMOSOME RECESSIVE DISORDER;

EID: 0032917818     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050144     Document Type: Article

References (8)

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