Molecular etiology of low-penetrance retinoblastoma in two pedigrees.

In one family with low-penetrance retinoblastoma, a germ-line deletion is shared by affected and unaffected, obligate carriers. The deletion encompasses exon 4 of the retinoblastoma gene and corresponds to a mutant protein without residues 127-166. In a second family, RFLP analysis shows that two di...

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Main Authors: Dryja, T P, Rapaport, J, McGee, T L, Nork, T M, Schwartz, T L
Formáid: Artigo
Teanga:Inglês
Foilsithe: 1993
Ábhair:
Research Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682279/
https://ncbi.nlm.nih.gov/pubmed/8099255
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