A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.
about
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosaHuman branch point consensus sequence is yUnAyThe molecular genetics of Marfan syndrome and related disordersThe molecular genetics of Marfan syndrome and related microfibrillopathiesRNA-Binding Proteins: Splicing Factors and DiseaseThe missing puzzle piece: splicing mutationsTen novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotypeComprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literatureGenomic, transcriptional and mutational analysis of the mouse microphthalmia locusHuman Splicing Finder: an online bioinformatics tool to predict splicing signals.A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome SequencingOcular phenotype of Fbn2-null mice.ATM heterozygosity and breast cancer: screening of 37 breast cancer patients for ATM mutations using a non-isotopic RNase cleavage-based assay.BPP: a sequence-based algorithm for branch point prediction.High-Throughput Assays to Assess the Functional Impact of Genetic Variants: A Road Towards Genomic-Driven Medicine.Detection of mutations by RNase cleavage.The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.Novel exon skipping mutation in the fibrillin-1 gene: Two 'hot spots' for the neonatal Marfan syndromeBeals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis
P2860
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P2860
A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.
description
1997 nî lūn-bûn
@nan
1997 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
A rare branch-point mutation i ...... l contractural arachnodactyly.
@ast
A rare branch-point mutation i ...... l contractural arachnodactyly.
@en
type
label
A rare branch-point mutation i ...... l contractural arachnodactyly.
@ast
A rare branch-point mutation i ...... l contractural arachnodactyly.
@en
prefLabel
A rare branch-point mutation i ...... l contractural arachnodactyly.
@ast
A rare branch-point mutation i ...... l contractural arachnodactyly.
@en
P2093
P2860
P356
P1476
A rare branch-point mutation i ...... al contractural arachnodactyly
@en
P2093
P2860
P304
P356
10.1086/515472
P407
P577
1997-06-01T00:00:00Z