The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

Nature Genetics

Volumn 30, Issue 1, 2002, Pages 22-25

  Cuesta, Ana ^a   Pedrola, Laia ^a   Sevilla, Teresa ^b   García Planells, Javier ^a   Chumillas, María José ^b   Mayordomo, Fernando ^b   LeGuern, Eric ^c   Marín, Ignacio ^d,e   Vílchez, Juan J ^b   Palau, Francesc ^a,d  

^a INSTITUTO DE BIOMEDICINA DE VALENCIA   (Spain)

^b HOSPITAL UNIVERSITARIO LA FE   (Spain)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d UNIVERSITY OF VALENCIA   (Spain)

^e UNIVERSITY OF VALENCIA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

GANGLIOSIDE INDUCED DIFFERENTIATION ASSOCIATED PROTEIN 1; GENE PRODUCT; GLUTATHIONE TRANSFERASE; THIOREDOXIN; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID SEQUENCE; ARTICLE; CHROMOSOME 8Q; CLINICAL ARTICLE; CONTROLLED STUDY; DEMYELINATION; FEMALE; GENE LOCUS; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HOARSENESS; HUMAN; HUMAN TISSUE; MALE; MOTOR NERVE CONDUCTION; NERVE FIBER DEGENERATION; NERVE POTENTIAL; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; VOCAL CORD PARALYSIS;

AGE OF ONSET; ALLELES; AMINO ACID SUBSTITUTION; AXONS; BRAIN; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 8; CODON, NONSENSE; DEMYELINATING DISEASES; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FRAMESHIFT MUTATION; GENES, RECESSIVE; HAPLOTYPES; HUMANS; INFANT; LOD SCORE; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; NEURAL CONDUCTION; PEDIGREE; POLYMERASE CHAIN REACTION; SPAIN; SPINAL CORD;

EID: 18544388962     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng798     Document Type: Article

References (14)