Semi-Automated Unidirectional Sequence Analysis for Mutation Detection in a Clinical Diagnostic Setting-Reference-Cited by-同舟云学术

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Semi-Automated Unidirectional Sequence Analysis for Mutation Detection in a Clinical Diagnostic Setting

Published:2009-06 Issue:3 Volume:13 Page:381-386
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Ellard Sian¹²,Shields Beverley²,Tysoe Carolyn¹,Treacy Rebecca³,Yau Shu⁴,Mattocks Christopher⁵,Wallace Andrew⁶

Affiliation:

1. Department of Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.

2. Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, United Kingdom.

3. East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge, United Kingdom.

4. DNA Laboratory, Guy's & St. Thomas' NHS Foundation Trust, London, United Kingdom.

5. National Genetics Reference Laboratory (Wessex), Salisbury District Hospital, Salisbury, United Kingdom.

6. National Genetics Reference Laboratory (Manchester), St Mary's Hospital, Manchester, United Kingdom.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2008.0096

Reference9 articles.

1. Permanent Neonatal Diabetes Caused by Dominant, Recessive, or Compound Heterozygous SUR1 Mutations with Opposite Functional Effects

2. Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood

3. Mendelian Inheritance in Man and Its Online Version, OMIM

4. Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring

5. Benchmark for Evaluating the Quality of DNA Sequencing: Proposal from an International External Quality Assessment Scheme

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