severe pulmonary and intestinal disease including ileus at birth and liver cirrhosis at the age 5 years, whereas the other one developed much better with only mild pulmonary changes. Clinical follow-up evaluation of our patient, a 5-year-old girl, was evocative of an intermediary status. Diagnosis o
β¦ LIBER β¦
Novel germline BRCA1 mutation (155del4) in an African American with early-onset breast cancer
β Scribed by Joellen Dangel; Josephine Wagner-Costalas; Betsy Bove; Lisa Vanderveer; Mark Itzen; Mary Daly; Andrew K. Godwin
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 10 KB
- Volume
- 14
- Category
- Article
- ISSN
- 1059-7794
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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 within thi