Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

Nature Genetics

Volumn 37, Issue 3, 2005, Pages 289-294

  Züchner, Stephan ^a,b   Noureddine, Maher ^a   Kennerson, Marina ^c,d   Verhoeven, Kristien ^d   Claeys, Kristl ^e,f   De Jonghe, Peter ^e,f   Merory, John ^g   Oliveira, Sofia A ^a   Speer, Marcy C ^a   Stenger, Judith E ^a   Walizada, Gina ^c   Zhu, Danqing ^c   Pericak Vance, Margaret A ^a   Nicholson, Garth ^c,d   Timmerman, Vincent ^e   Vance, Jeffery M ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^c ANZAC RESEARCH INSTITUTE   (Australia)

^d Department of Microbiology and Infectious Diseases   (Australia)

^e DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^f ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^g HEIDELBERG REPATRIATION HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

DYNAMIN II; GUANOSINE TRIPHOSPHATASE; PLECKSTRIN; COMPLEMENTARY DNA; PHOSPHOPROTEIN; PLASMA PROTEIN; PLATELET PROTEIN P47;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; AUSTRALIA; AUTOSOMAL DOMINANT INHERITANCE; BELGIUM; CELL FUSION; CHROMOSOME 19P; CONTROLLED STUDY; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; HUMAN TISSUE; MOUSE; NEUTROPENIA; NONHUMAN; NORTH AMERICA; NUCLEOTIDE SEQUENCE; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; ANIMAL; CELL LINE; CHEMISTRY; DOMINANT GENE; GENETICS; MOLECULAR CLONING; MOLECULAR GENETICS; MUTATION; WESTERN BLOTTING;

ANIMALIA;

ANIMALS; BLOOD PROTEINS; BLOTTING, WESTERN; CELL LINE; CHARCOT-MARIE-TOOTH DISEASE; CLONING, MOLECULAR; DNA, COMPLEMENTARY; DYNAMIN II; GENES, DOMINANT; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PHOSPHOPROTEINS;

EID: 20144366550     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1514     Document Type: Article

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