Results 111 to 120 of about 151,372 (221)

Congenital Myasthenic Syndromes due to Heteroallelic Nonsense/Missense Mutations in the Acetylcholine Receptor Subunit Gene: Identification and Functional Characterization of Six New Mutations [PDF]

, 1997
Kinji Ohno, Polly A. Quiram, Margherita Milone, Hai-Long Wang, Marion C. Harper, J. Ned Pruitt, Joan M. Brengman, Lily Pao, Kenneth H. Fischbeck, Thomas O. Crawford, Steven M. Sine, Andrew G. Engel   +11 more
openalex   +1 more source

MMT: Mutation Testing of Java Bytecode with Model Transformation -- An Illustrative Demonstration [PDF]

arXiv
Mutation testing is an approach to check the robustness of test suites. The program code is slightly changed by mutations to inject errors. A test suite is robust enough if it finds such errors. Tools for mutation testing usually integrate sets of mutation operators such as, for example, swapping arithmetic operators; modern tools typically work with ...
arxiv  

Absence of missense mutations in activated c-myc genes in avian leukosis virus-induced B-cell lymphomas.

, 1988
Mounou Hahn, W S Hayward
openalex   +1 more source

Establishment of a human induced pluripotent stem cell line, KMUGMCi009-A, from a patient bearing a missense mutation in the MED12 gene leading X-linked Ohdo syndrome

Stem Cell Research
X-linked Ohdo syndrome is a heterogenous group of disorders characterized by intellectual disability and typical facial features including blepharophimosis.
Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida   +3 more
doaj  

A Family with Liddle’s Syndrome Caused by a New Missense Mutation in the β Subunit of the Epithelial Sodium Channel [PDF]

, 1998
Junnosuke Inoue, Taisuke Iwaoka, Hiroshi Tokunaga, Kazufumi Takamune, Shojiro Naomi, Masatake Araki, Kazuo Takahama, Kohei Yamaguchi, Kimio Tomita   +8 more
openalex   +1 more source

A Missense Mutation in the Gene Results in Total Absence of α3-Fucosylation of Human α1-Acid Glycoprotein [PDF]

, 1996
Els C.M. Brinkman-Van der Linden, Rosella Mollicone, Rafaël Oriol, Göran Larson, Dirk H. van den Eijnden, Willem van Dijk   +5 more
openalex   +1 more source

Affected Siblings with Alzheimer's Disease Had Missense Mutation of Codon 717 in Amyloid Precursor Protein Gene.

, 1992
Katsuya Tanabe, T. Miki, Hirotaka Tanabe, Masanobu Takeda, Keiichi Hosokawa, Hideki Hayashi, Shu‐ichi Hashimoto, Tomoko Nishimura, Takehide Ogihara   +8 more
openalex   +2 more sources

Genetic and Molecular Analysis of a tRNALeu Missense Suppressor of nudC3, a Mutation That Blocks Nuclear Migration in Aspergillus nidulans [PDF]

, 1997
Ya-Hui Chiu, N. Ronald Morris
openalex   +1 more source

Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.

, 1992
Bernd Schäfer, R W BISHOP, V.J. Kratunis, Stephen Kalinowski, Stephen T. Mosley, K. Michael Gibson, Ryouichi Tanaka   +6 more
openalex   +1 more source

Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation

Molecular Genetics and Metabolism Reports, 2018
A study published in 2012 estimated incidence of MPS IVA, in 0.68 cases per 100, 000 live births in Colombia, and according to the Colombian Fund for High-Cost Diseases, in 2014 there were 15 people diagnosed with MPS IV.
Lina Johanna Moreno Giraldo, Ángela María Escudero Rodríguez, Adalberto Sánchez Gómez, José María Satizabal Soto   +3 more
doaj