A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes.

Journal of medical genetics

Volumn 42, Issue 12, 2005, Pages

  Gooding, R ^a   Colomer, J ^a   King, R ^a   Angelicheva, D ^a   Marns, L ^a   Parman, Y ^a   Chandler, D ^a   Bertranpetit, J ^a   Kalaydjieva, L ^a  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; KIAA1985 PROTEIN, HUMAN; PROTEIN;

ARTICLE; BIOLOGICAL MODEL; CHEMISTRY; CHILD; FAMILY HEALTH; FEMALE; FOUNDER EFFECT; GENETIC LINKAGE; GENETICS; HUMAN; MALE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PERIPHERAL NEUROPATHY; PHENOTYPE; SPAIN;

ARGININE; BASE SEQUENCE; CHILD; FAMILY HEALTH; FEMALE; FOUNDER EFFECT; HUMANS; LINKAGE (GENETICS); MALE; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PERIPHERAL NERVOUS SYSTEM DISEASES; PHENOTYPE; PROTEINS; SPAIN;

EID: 33745994264     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2005.034132     Document Type: Article

References (0)