𝔖 Bobbio Scriptorium
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Symposium: Phenotypes and genotypes in hereditary eye diseases


Book ID
109340249
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
87 KB
Volume
84
Category
Article
ISSN
1395-3907

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Genotype–phenotype correlations in hered
✍ Melissa Taylor; Catherine Dehainault; Laurence Desjardins; François Doz; Christi 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 260 KB

## Communicated by Georgia Chenevix-Trench We studied 50 unrelated pedigrees with a family history of retinoblastoma (Rb) (165 carriers of a RB1 mutation) to delineate the spectrum of RB1 germline mutations in familial Rb and to identify genotype-phenotype correlations as well as putative modifier