Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation

American Journal of Medical Genetics

Volumn 132 A, Issue 4, 2005, Pages 361-364

  Carballo, Miguel ^a   Roig, Ignasi ^a   Aguilar, Francesc ^a   Pol, Maria Antonia ^a   Gamundi, María José ^a   Hernan, Imma ^a   Martinez Gimeno, María ^a  

^a HOSPITAL DE TERRASSA   (Spain)

Author keywords

GISTs

Indexed keywords

CD34 ANTIGEN; GENOMIC DNA; GLUTAMINE; LEUCINE;

ADULT; ARTICLE; C KIT GENE; CASE REPORT; CLINICAL EXAMINATION; CONTROLLED STUDY; ENZYME ACTIVATION; ENZYME ACTIVITY; EXON; FEMALE; GASTROINTESTINAL STROMAL TUMOR; GENE; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; HYPERPIGMENTATION; IMMUNOHISTOCHEMISTRY; PEDIGREE; PRIORITY JOURNAL;

ADULT; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; FAMILY HEALTH; FEMALE; GASTROINTESTINAL STROMAL TUMORS; GERM-LINE MUTATION; HUMANS; HYPERPIGMENTATION; IMMUNOHISTOCHEMISTRY; INFANT; MALE; MIDDLE AGED; PEDIGREE; PROTO-ONCOGENE PROTEINS C-KIT;

EID: 12944291461     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30388     Document Type: Article

References (23)

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