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Human germline mutation in the factor IX gene

โœ Scribed by Sommer, Steve S.; Scaringe, William A.; Hill, Kathleen A.

Book ID
119560706
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
221 KB
Volume
487
Category
Article
ISSN
0921-8777

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Three germline mutations in the TP53 gen
Three germline mutations in the TP53 gene
โœ RS Cornelis; M van Vliet; MJ van de Vijver; HFA Vasen; PA Voute; B Top; P. Meera ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 170 KB ๐Ÿ‘ 2 views

Three germline mutations in the TP53 tumor-suppressor gene are reported, two of which are not reported previously. A missense mutation at codon 265 of TP53 was found in three patients of a family that complied with the definition of the Li-Fraumeni syndrome. A nonsense mutation in codon 306 was foun