Gene symbol: SH3TC2. Disease: Charcot-Marie-Tooth type 4C.

Human genetics

Volumn 124, Issue 3, 2008, Pages 320-

  Espinós, Carmen ^a,a   Martínez Rubio, Dolores ^a   Millán, José M ^a   Palau, Francesc ^a  

^a INSTITUTO DE BIOMEDICINA DE VALENCIA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; RESTRICTION ENDONUCLEASE; SH3TC2 PROTEIN, HUMAN;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CODON; EXON; FEMALE; GENETIC POLYMORPHISM; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; METABOLISM; MISSENSE MUTATION; POINT MUTATION; RECESSIVE GENE; SINGLE STRAND CONFORMATION POLYMORPHISM;

AMINO ACID SUBSTITUTION; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CODON; DNA RESTRICTION ENZYMES; EXONS; FEMALE; GENES, RECESSIVE; HUMANS; MUTATION, MISSENSE; POINT MUTATION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS;

EID: 54449091191     PISSN: None     EISSN: 14321203     Source Type: Journal    
DOI: None     Document Type: Article

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