Mutations in the SMAD4/DPC4 gene in juvenile polyposis.
Familial juvenile polyposis is an autosomal dominant disease characterized by a predisposition to hamartomatous polyps and gastrointestinal cancer. Here it is shown that a subset of juvenile polyposis families carry germ line mutations in the gene SMAD4 (also known as DPC4), located on chromosome 18...
Үндсэн зохиолчид: | Howe, JR, Roth, S, Ringold, J, Summers, R, Järvinen, H, Sistonen, P, Tomlinson, I, Houlston, R, Bevan, S, Mitros, F, Stone, E, Aaltonen, L |
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Формат: | Journal article |
Хэл сонгох: | English |
Хэвлэсэн: |
1998
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Ижил төстэй зүйлс
Ижил төстэй зүйлс
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Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.
-н: Houlston, R, зэрэг
Хэвлэсэн: (1998) -
Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers.
-н: Woodford-Richens, K, зэрэг
Хэвлэсэн: (2001) -
Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome.
-н: Bevan, S, зэрэг
Хэвлэсэн: (1999) -
Allelic loss at SMAD4 in polyps from juvenile polyposis patients and use of fluorescence in situ hybridization to demonstrate clonal origin of the epithelium.
-н: Woodford-Richens, K, зэрэг
Хэвлэсэн: (2000) -
SMAD4 variants and its genotype–phenotype correlations to juvenile polyposis syndrome
-н: Kimberley Cao, зэрэг
Хэвлэсэн: (2023-12-01)