Novel GDAP1 mutation in a turkish family with CMT2K (CMT2K with Novel GDAP1 Mutation)

NeuroMolecular Medicine

Volumn 11, Issue 2, 2009, Pages 106-113

  Sahin Calapoglu, Nilufer ^a   Tan, Meliha ^b   Soyoz, Mustafa ^a   Calapoglu, Mustafa ^c   Ozcelik, Nurten ^a  

^a SULEYMAN DEMIREL UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^b BASKENT UNIVERSITY   (Turkey)

^c SULEYMAN DEMIREL UNIVERSITY   (Turkey)

Author keywords

Autosomal recessive; Axonal; Charcot Marie Tooth neuropathy; Ganglioside induced differentiation associated protein 1; Mutation

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHARCOT MARIE TOOTH DISEASE TYPE 2; CLINICAL FEATURE; FEMALE; GDAP 1 GENE; GENE; GENETIC POLYMORPHISM; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MISSENSE MUTATION; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TURKEY (REPUBLIC); ACTION POTENTIAL; ANIMAL; ELECTROPHYSIOLOGY; FAMILY; GENETIC PREDISPOSITION; GENETICS; METABOLISM; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; PHYSIOLOGY;

GDAP PROTEIN; NERVE PROTEIN;

ACTION POTENTIALS; ADULT; AGE OF ONSET; ANIMALS; CHARCOT-MARIE-TOOTH DISEASE; DNA MUTATIONAL ANALYSIS; ELECTROPHYSIOLOGY; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; NERVE TISSUE PROTEINS; PEDIGREE; POLYMORPHISM, GENETIC; TURKEY;

EID: 70349771513     PISSN: 15351084     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12017-009-8062-5     Document Type: Article

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