𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma

✍ Scribed by S Yilmaz; B Horsthemke; DR Lohmann

Book ID
118280427
Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
104 KB
Volume
12
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Germline mutations in the RB1 gene in pa
Germline mutations in the RB1 gene in patients with hereditary retinoblastoma
✍ Zaoxia Liu; Yue Song; Britta Bia; John K. Cowell πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 664 KB

We have analyzed the 27 exons and the promoter region of the RBI gene in familial or sporadic bilateral retinoblastoma by using single-strand conformation polymorphism analysis. For improvement over previous studies, a new set of primers has been designed, which allow for amplification of the coding

Distinct RB1 gene mutations with low pen
Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma
✍ Dietmar R. Lohmann; Birgit Brandt; Wolfgang HΓΆpping; Eberhard Passarge; Bernhard πŸ“‚ Article πŸ“… 1994 πŸ› Springer 🌐 English βš– 706 KB

The interfamilial diversity in penetrance and expressivity of hereditary retinoblastoma was investigated in 29 families. By using a simple parameter for estimating the severity of the disease (diseased-eye-ratio), we were able to identify four families with a discrete low-penetrance phenotype. The u

RB1 gene mutations in retinoblastoma
RB1 gene mutations in retinoblastoma
✍ Dietmar R. Lohmann πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 237 KB πŸ‘ 2 views

Mutations in both alleles of the RB1 gene are causal for the development of retinoblastoma, a childhood tumor of the eye. The spectrum of somatic and germline mutations in this gene is dominated by small mutations. Data on small mutations are listed in a locus specific database available at http://w