scholarly journals Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

2010 ◽  
Vol 42 (5) ◽  
pp. 385-391 ◽  
Author(s):  
Donald F Conrad ◽  
Christine Bird ◽  
Ben Blackburne ◽  
Sarah Lindsay ◽  
Lira Mamanova ◽  
...  
Keyword(s):  
Mutation Spectrum ◽  
Breakpoint Sequencing

scholarly journals Mutation spectrum of Drosophila CNVs revealed by breakpoint sequencing

2012 ◽  
Vol 13 (12) ◽  
pp. R119 ◽  
Author(s):  
Margarida Cardoso-Moreira ◽  
J Arguello ◽  
Andrew G Clark
Keyword(s):  
Mutation Spectrum ◽  
Breakpoint Sequencing

Influence of mature and immature sunflower seed treatment with ethylmethanesulphonate on mutation spectrum and frequency

Helia ◽  
2005 ◽  
Vol 28 (43) ◽  
pp. 87-98 ◽  
Author(s):  
Lyakh V. ◽  
Soroka A. ◽  
Vasiti V.
Keyword(s):  
Sunflower Seed ◽  
Seed Treatment ◽  
Mutation Spectrum

scholarly journals Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype–phenotype analysis

2021 ◽  
pp. bjophthalmol-2021-319084
Author(s):  
Zexu Chen ◽  
Tianhui Chen ◽  
Min Zhang ◽  
Jiahui Chen ◽  
Michael Deng ◽  
...  
Keyword(s):  
Calcium Binding ◽  
Gene Mutations ◽  
Mutation Spectrum ◽  
Missense Mutations ◽  
Ectopia Lentis ◽  
Phenotype Analysis ◽  
Chinese Cohort ◽  
Fibrillin 1 ◽  
Epidermal Growth ◽  
Dependent Probe

AimsTo identify the mutation spectrum and genotype–phenotype correlations of fibrillin-1 (FBN1) mutations in a Chinese cohort with congenital ectopia lentis (EL).MethodsPatients clinically suspected of congenital zonulopathy were screened using panel-based next-generation sequencing followed by multiplex ligation-dependent probe amplification. All the probands were subjected to thorough ocular examinations. Molecular and clinical data were integrated in pursuit of genotype–phenotype correlation.ResultsA total of 131 probands of FBN1 mutations from unrelated families were recruited. Around 65% of the probands were children younger than 9 years old. Overall, 110 distinct FBN1 mutations were identified, including 39 novel ones. The most at-risk regions were exons 13, 2, 6, 15, 24 and 33 in descending order of mutation frequency. The most prevalent mutation was c.184C>T (seven, 5.34%) in the coding sequence and c.5788+5G>A (three, 2.29%) in introns. Missense mutations were the most frequent type (103, 78.63%); half of which were distributed in the N-terminal regions (53, 51.46%). The majority of missense mutations were detected in one of the calcium-binding epidermal growth factor-like domains (62, 60.19%), and 39 (62.90%) of them were substitutions of conserved cysteine residues. Microspherophakia (MSP) was found in 15 patients (11.45%). Mutations in the middle region (exons 22–42), especially exon 26, had higher risks of combined MSP (OR, 5.51 (95% CI 1.364 to 22.274), p=0.017).ConclusionsThis study extended the knowledge of the FBN1 mutation spectrum and provided novel insights into its clinical correlation regarding EL and MSP in the Chinese population.

Mutation spectrum of glycogen storage disease type Ia in Tunisia: Implication for molecular diagnosis

2007 ◽  
Vol 30 (6) ◽  
pp. 989-989 ◽  
Author(s):  
E. Barkaoui ◽  
W. Cherif ◽  
N. Tebib ◽  
C. Charfeddine ◽  
F. Ben Rhouma ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Molecular Diagnosis ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Mutation Spectrum ◽  
Type Ia

scholarly journals Mutation spectrum of copper-induced DNA damage.

1992 ◽  
Vol 267 (19) ◽  
pp. 13778
Author(s):  
L.K. Tkeshelashvili ◽  
T McBride ◽  
K Spence ◽  
L.A. Loeb
Keyword(s):  
Dna Damage ◽  
Mutation Spectrum

Clinical characterization and mutation spectrum in patients with familial adenomatous polyposis in China

2019 ◽  
Vol 34 (9) ◽  
pp. 1497-1503
Author(s):  
Na Li ◽  
Qian Kang ◽  
Lang Yang ◽  
Xiao‐Jun Zhao ◽  
Li‐Jun Xue ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Mutation Spectrum ◽  
Adenomatous Polyposis

scholarly journals Mutation spectrum of hepatocellular carcinoma from eastern-European patients betrays the impact of a complex exposome

2014 ◽  
Vol 25 (3) ◽  
pp. 256-263 ◽  
Author(s):  
Anna-Maria Tanase ◽  
Agnès Marchio ◽  
Traian Dumitrascu ◽  
Simona Dima ◽  
Vlad Herlea ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Mutation Spectrum ◽  
Eastern European ◽  
The Impact

scholarly journals In vivo mutagenicity and mutation spectrum in the bone marrow and testes of B6C3F1 lacI transgenic mice following inhalation exposure to ethylene oxide

Mutagenesis ◽  
2004 ◽  
Vol 19 (3) ◽  
pp. 215-222 ◽  
Author(s):  
Leslie Recio ◽  
Maria Donner ◽  
Diane Abernethy ◽  
Linda Pluta ◽  
Ann‐Marie Steen ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Transgenic Mice ◽  
Ethylene Oxide ◽  
Inhalation Exposure ◽  
Mutation Spectrum ◽  
In Vivo Mutagenicity
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