Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy

American Journal of Human Genetics

Volumn 86, Issue 3, 2010, Pages 343-352

  Kennerson, Marina L ^a,b   Nicholson, Garth A ^a,b   Kaler, Stephen G ^c   Kowalski, Bartosz ^a   Mercer, Julian F B ^d   Tang, Jingrong ^c   Llanos, Roxana M ^d   Chu, Shannon ^a   Takata, Reinaldo I ^e   Speck Martins, Carlos E ^e   Baets, Jonathan ^f   Almeida Souza, Leonardo ^f   Fischer, Dirk ^g   Timmerman, Vincent ^f   Taylor, Philip E ^d   Scherer, Steven S ^h   Ferguson, Toby A ^h   Bird, Thomas D ^i,j   De Jonghe, Peter ^f   Feely, Shawna M E ^k   Shy, Michael E ^k   Garbern, James Y ^k   more..

^a UNIVERSITY OF SYDNEY   (Australia)

^b Department of Microbiology and Infectious Diseases   (Australia)

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

^d DEAKIN UNIVERSITY   (Australia)

^e SARAH NETWORK OF REHABILITATION HOSPITALS   (Brazil)

^f UNIVERSITY OF ANTWERP   (Belgium)

^g UNIVERSITY HOSPITAL BASEL   (Switzerland)

^h UNIVERSITY OF PENNSYLVANIA   (United States)

ⁱ UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^j VA PUGET SOUND HEALTH CARE SYSTEM   (United States)

^k WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MENKES PROTEIN; MESSENGER RNA;

ARTICLE; CHROMOSOME XQ; CONTROLLED STUDY; COPPER DEFICIENCY; DEGENERATIVE DISEASE; FEMALE; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MENKES SYNDROME; MISSENSE MUTATION; MOTOR NEUROPATHY; PRIORITY JOURNAL; SACCHAROMYCES CEREVISIAE; SITE DIRECTED MUTAGENESIS; X CHROMOSOME LINKED DISORDER;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CATION TRANSPORT PROTEINS; CELLS, CULTURED; CHILD, PRESCHOOL; COPPER; DNA PRIMERS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC COMPLEMENTATION TEST; GENETIC DISEASES, X-LINKED; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MENKES KINKY HAIR SYNDROME; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MOTOR NEURON DISEASE; MUTATION, MISSENSE; PEDIGREE; RNA, MESSENGER; SEQUENCE HOMOLOGY, AMINO ACID; SYNDROME; YOUNG ADULT;

EID: 77649236039     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.01.027     Document Type: Article

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