Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications.
about
Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database.Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counsellingRB1 gene mutations in retinoblastoma and its clinical correlationNonsense-mediated decay in genetic disease: friend or foe?Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression.Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma.Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma.Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease.Pattern of sequence variation across 213 environmental response genes.Tocotrienol Treatment in Familial Dysautonomia: Open-Label Pilot Study.Mutational analysis of the RB1 gene in Indian patients with retinoblastoma.Two independent RB1-inactivating mutations in peripheral blood DNA of a hereditary retinoblastoma patient.Mutational analysis of the RB1 gene and the inheritance patterns of retinoblastoma in Jordan.Familial retinoblastoma due to intronic LINE-1 insertion causes aberrant and noncanonical mRNA splicing of the RB1 gene.Retinoblastoma (RB1) pocket domain mutations and promoter hyper-methylation in head and neck cancer.Low penetrance hereditary retinoblastoma in a family: what should we consider in the genetic counselling process and follow up?
P2860
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P2860
Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications.
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
2001年學術文章
@zh-hant
name
Spectrum of germline RB1 gene ...... epidemiological implications.
@en
Spectrum of germline RB1 gene ...... epidemiological implications.
@nl
type
label
Spectrum of germline RB1 gene ...... epidemiological implications.
@en
Spectrum of germline RB1 gene ...... epidemiological implications.
@nl
prefLabel
Spectrum of germline RB1 gene ...... epidemiological implications.
@en
Spectrum of germline RB1 gene ...... epidemiological implications.
@nl
P2093
P2860
P356
P1433
P1476
Spectrum of germline RB1 gene ...... epidemiological implications.
@en
P2093
Abelairas J
García-Miguel P
Mendiola M
Vendrell MT
P2860
P304
P356
10.1002/HUMU.1117
P577
2001-05-01T00:00:00Z