Co-segregation of MEN2 and Hirschsprung's disease: the same mutation of RET with both gain and loss-of-function?

Takahashi, M; Iwashita, T; Santoro, M; Lyonnet, S; Lenoir, G M; Billaud, M

Takahashi, M; Iwashita, T; Santoro, M; Lyonnet, S; Lenoir, G M; Billaud, M.

Hum Mutat ; 13(4): 331-6, 1999.

Article in En | MEDLINE | ID: mdl-10220148

Subject(s)

Drosophila Proteins; Hirschsprung Disease/genetics; Multiple Endocrine Neoplasia Type 2a/genetics; Nerve Growth Factors; Proto-Oncogene Proteins/genetics; Receptor Protein-Tyrosine Kinases/genetics; Glial Cell Line-Derived Neurotrophic Factor; Glial Cell Line-Derived Neurotrophic Factor Receptors; Glycosylphosphatidylinositols/metabolism; Hirschsprung Disease/metabolism; Humans; Models, Genetic; Multiple Endocrine Neoplasia Type 2a/metabolism; Mutation; Nerve Tissue Proteins/metabolism; Proto-Oncogene Proteins/metabolism; Proto-Oncogene Proteins c-ret; Receptor Protein-Tyrosine Kinases/metabolism

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Collection: 01-internacional Database: MEDLINE Main subject: Proto-Oncogene Proteins / Receptor Protein-Tyrosine Kinases / Multiple Endocrine Neoplasia Type 2a / Drosophila Proteins / Hirschsprung Disease / Nerve Growth Factors Type of study: Prognostic_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 1999 Document type: Article Country of publication: United States

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