title: A novel RAB7 mutation associated with ulcero-mutilating neuropathy.
authors.affiliation: University Department of Clinical Neurosciences, Royal Free Campus, Royal Free and University College Medical School, University College London, United Kingdom.
authors.forename: Henry
authors.initials: H
authors.lastname: Houlden
authors.forename: Rosalind H M
authors.initials: RH
authors.lastname: King
authors.forename: John R
authors.initials: JR
authors.lastname: Muddle
authors.forename: Thomas T
authors.initials: TT
authors.lastname: Warner
authors.forename: Mary M
authors.initials: MM
authors.lastname: Reilly
authors.forename: Richard W
authors.initials: RW
authors.lastname: Orrell
authors.forename: Lionel
authors.initials: L
authors.lastname: Ginsberg
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000595:Amino Acid Sequence; D000818:Animals; D001216:Asparagine / Q000235:genetics; D001706:Biopsy / Q000379:methods; D002352:Carrier Proteins / Q000378:metabolism; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D007839:Functional Laterality / Q000502:physiology; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics* / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D066298:In Vitro Techniques; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009431:Neural Conduction / Q000502:physiology; D013194:Staining and Labeling / Q000379:methods; D013497:Sural Nerve / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology / Q000528:radiation effects; D013912:Threonine / Q000235:genetics; D020691:rab GTP-Binding Proteins / Q000235:genetics*; D000090802:rab7 GTP-Binding Proteins
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; C423317:RILP protein, human; D000090802:rab7 GTP-Binding Proteins; C000716463:rab7 GTP-binding proteins, human; D013912:Threonine; D001216:Asparagine; D020691:rab GTP-Binding Proteins