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Deletion mutation

Genetic Testing of Korean Familial Hypercholesterolemia Using Whole-Exome Sequencing

Soo Min Han, Byungjin Hwang, [ ... ], Sang-Hak Lee

Various mutations compensate for a deleterious lacZα insert in the replication enhancer of M13 bacteriophage

Emily M. Zygiel, Karen A. Noren, [ ... ], Marilena Fitzsimons Hall

Frequency of COL4A3/COL4A4 Mutations amongst Families Segregating Glomerular Microscopic Hematuria and Evidence for Activation of the Unfolded Protein Response. Focal and Segmental Glomerulosclerosis Is a Frequent Development during Ageing

Louiza Papazachariou, Panayiota Demosthenous, [ ... ], Constantinos Deltas

Gene-Specific Function Prediction for Non-Synonymous Mutations in Monogenic Diabetes Genes

Quan Li, Xiaoming Liu, [ ... ], Hui-Qi Qu

Superior Multiplexing Capacity of PlexPrimers Enables Sensitive and Specific Detection of SNPs and Clustered Mutations in qPCR

Lit Yeen Tan, Samantha Michelle Walker, [ ... ], Elisa Mokany

Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California

Danieli B. Salinas, Patrick R. Sosnay, [ ... ], Martin Kharrazi

Neurospora crassa Female Development Requires the PACC and Other Signal Transduction Pathways, Transcription Factors, Chromatin Remodeling, Cell-To-Cell Fusion, and Autophagy

Jennifer L. Chinnici, Ci Fu, [ ... ], Stephen J. Free

Genetic Mutation Analysis of Human Gastric Adenocarcinomas Using Ion Torrent Sequencing Platform

Zhi Xu, Xinying Huo, [ ... ], Jinfei Chen

High Mutability of the Tumor Suppressor Genes RASSF1 and RBSP3 (CTDSPL) in Cancer

Vladimir I. Kashuba, Tatiana V. Pavlova, [ ... ], Eugene R. Zabarovsky

Angiomyolipoma Have Common Mutations in TSC2 but No Other Common Genetic Events

Wei Qin, Vineeta Bajaj, [ ... ], David J. Kwiatkowski

LC-MS/MS Confirms That COX-1 Drives Vascular Prostacyclin Whilst Gene Expression Pattern Reveals Non-Vascular Sites of COX-2 Expression

Nicholas S. Kirkby, Anne K. Zaiss, [ ... ], Jane A. Mitchell

Allele-Specific Impairment of GJB2 Expression by GJB6 Deletion del(GJB6-D13S1854)

Juan Rodriguez-Paris, Marta L. Tamayo, Nancy Gelvez, Iris Schrijver

Mutation Accumulation May Be a Minor Force in Shaping Life History Traits

Maciej Jan Dańko, Jan Kozłowski, James Walton Vaupel, Annette Baudisch

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