A duplication of 12 bp in the critical cysteine rich domain of the RET proto-oncogene results in a distinct phenotype of multiple endocrine neoplasia type 2A

Human Molecular Genetics

Volumn 6, Issue 4, 1997, Pages 587-590

  Höppner, Wolfgang ^a   Ritter, Michael M ^b  

^a UNIVERSITY OF HAMBURG   (Germany)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE;

AMINO ACID SEQUENCE; ARTICLE; CLINICAL ARTICLE; GENE DUPLICATION; HETEROZYGOSITY; HUMAN; HYPERCALCEMIA; MISSENSE MUTATION; ONCOGENE RET; PARATHYROID HYPERPLASIA; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; SIPPLE SYNDROME;

ALLELES; CYSTEINE; DROSOPHILA PROTEINS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; EXONS; FEMALE; HUMANS; HYPERCALCEMIA; HYPERPLASIA; MALE; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; MUTATION; PARATHYROID GLANDS; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR PROTEIN-TYROSINE KINASES; REPETITIVE SEQUENCES, NUCLEIC ACID; SEQUENCE ANALYSIS;

EID: 0030981891     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.4.587     Document Type: Article

References (14)

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