Novel p53 splice site mutations in three families with Li-Fraumeni syndrome (Q74298014)

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10 November 2019

title

Novel p53 splice site mutations in three families with Li-Fraumeni syndrome (English)

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10 November 2019

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Verselis SJ

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10 November 2019

Rheinwald JG

series ordinal

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10 November 2019

Fraumeni JF Jr

series ordinal

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10 November 2019

Li FP

series ordinal

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10 November 2019

language of work or name

English

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publication date

1 August 2000

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10 November 2019

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10 November 2019

volume

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10 November 2019

issue

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10 November 2019

page(s)

4230-4235

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Codon 72 polymorphism of the TP53 gene

10 November 2019

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Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa

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7 January 2021

Human keratinocytes that express hTERT and also bypass a p16(INK4a)-enforced mechanism that limits life span become immortal yet retain normal growth and differentiation characteristics

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7 January 2021

A simple p53 functional assay for screening cell lines, blood, and tumors

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7 January 2021

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7 January 2021

Interrelationships of the pathways of mRNA decay and translation in eukaryotic cells

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Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome?

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Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms

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7 January 2021

Primary structure polymorphism at amino acid residue 72 of human p53.

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7 January 2021

Splicing of messenger RNA precursors

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A database of germline p53 mutations in cancer-prone families

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7 January 2021

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

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Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome

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7 January 2021

Genetic and functional studies of a germline TP53 splicing mutation in a Li-Fraumeni-like family

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7 January 2021

Li-Fraumeni syndrome – a molecular and clinical review

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7 January 2021

A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier

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7 January 2021

Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency

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7 January 2021