An in-frame complex germline mutation in the juxtamembrane intracellular domain causing RET activation in familial medullary thyroid carcinoma

Endocrine-Related Cancer

Volumn 13, Issue 3, 2006, Pages 945-953

  Cordella, Daniela ^a   Muzza, Marina ^b   Alberti, Luisella ^a   Colombo, Paolo ^c   Travaglini, Pietro ^b,c   Beck Peccoz, Paolo ^b,d   Fugazzola, Laura ^b,d   Persani, Luca ^a,b  

^a ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c HUMANITAS CLINICAL AND RESEARCH CENTER   (Italy)

^d IRCCS   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; LYSINE; MUTANT PROTEIN; PROTEIN RET;

ADULT; AGED; ARTICLE; AUTOPHOSPHORYLATION; CASE REPORT; CELL MEMBRANE; DIMERIZATION; EXON; FAMILIAL CANCER; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE REARRANGEMENT; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; LYMPH NODE METASTASIS; MALE; PRESCHOOL CHILD; PROTEIN STRUCTURE; SITE DIRECTED MUTAGENESIS; THYROID MEDULLARY CARCINOMA; THYROID NODULE; THYROID PARAFOLLICULAR CELL; THYROIDECTOMY; WILD TYPE;

ADULT; BASE SEQUENCE; CARCINOMA, MEDULLARY; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GERM-LINE MUTATION; HUMANS; MALE; MOLECULAR SEQUENCE DATA; NUCLEAR FAMILY; PEDIGREE; PROTO-ONCOGENE PROTEINS C-RET; THYROID NEOPLASMS;

EID: 33751103971     PISSN: 13510088     EISSN: None     Source Type: Journal    
DOI: 10.1677/erc.1.01144     Document Type: Article

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