Sage Journals: Discover world-class research

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Case report

First published 2020

A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP

T. Benquey, E. Fockens, L. Kouton [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2001-10

Detection of Point Mutation for Human Growth Hormone in Patients with Anti-Pituitary Antibody Positive Type 1 Diabetes Mellitus

H Koike, M Motooka, T Kanda [...]

Journal of International Medical Research

Open access

Case report

First published 2023-05-02

A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion

Yoshiaki Takahashi, Nobutoshi Morimoto, Tomoaki Nada [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2021-12-31

Point mutation of COVID-19 proteins: A study on noval corona virus (nCov) correlation with MERS and H1N1 viruses and in silico investigation of nCoV proteins for future applications

Akansha Kaushik, Swati Kasana, Priyanka Verma [...]

Journal of Cellular Biotechnology

Retricted access

Research article

First published 1993-09

Point Mutation of the ras Oncogene in Human Ovarian Cancer

Chin-Hsiang Chien, Song-Nan Chow

DNA and Cell Biology

Retricted access

Research article

First published 2014-10

Repair of Single-Point Mutations by Polypurine Reverse Hoogsteen Hairpins

Anna Solé, Xenia Villalobos, Carlos J. Ciudad [...]

Human Gene Therapy Methods (Part B)

Retricted access

Research article

First published 2005-09

Accurate Detection and Quantitation of Heteroplasmic Mitochondrial Point Mutations by Pyrosequencing

Helen E. White, Victoria J. Durston, Anneke Seller [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Research article

First published 1997-1

Dystrophin Point Mutation Screening Using a Multiplexed Protein Truncation Test

Neil V. Whittock, Roland G. Roberts, Christopher G. Mathew [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Research article

First published 2023-5

A novel deletion mutation accompanied by a point mutation in Lamin A/C gene: Screened from a dilated cardiomyopathy family

Hao Jia, Yongxin Sun, Wangchao Yao [...]

Perfusion

Retricted access

Research article

First published 2004-8

Analysis of RET Gene Point Mutation in a Family with Familial Medullary Thyroid Cancer

Kang Dae Lee, Hyo Sung Mun, Shiro Noguchi

Otolaryngology–Head and Neck Surgery

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