Mutation detection in exons 1–14 of the adenomatous polyposis coli gene: identification of an alternatively spliced transcript
✍ Scribed by Tayebeh Hamzehloei; Sarah P. West; Pam Chapman; John Burn; Ann Curtis
- Book ID
- 115638136
- Publisher
- Elsevier Science
- Year
- 1996
- Tongue
- English
- Weight
- 247 KB
- Volume
- 10
- Category
- Article
- ISSN
- 0890-8508
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## Germline mutations within the adenomatous polyposis coli (APC ) gene, a tumor suppressor gene, are responsible for most cases of familial adenomatous polyposis (FAP), an autosomal dominantly inherited predisposition to colorectal cancer. To date, more than 300 germ-line causative mutations with
cDNA clones, representing transcripts expressed in human fetal brain, have been isolated that specify the 5" end of the adenomatous polyposis coli (APC) gene. Sequence analyses have revealed an alternative 5" untranslated region (5"UTR) of the APC gene; this region is comprised of at least 103 basep
Germ-line mutations in the adenomatous polyposis coli (APC) gene are responsible for familial adenomatous polyposis (FAP). Genotype-phenotype correlation studies in patients with FAP have demonstrated associations of certain variants of the disease with mutations at specific sites within the APC gen