Automated Comparative Sequence Analysis Identifies Mutations in 89% of NF1 Patients and Confirms a Mutation Cluster in Exons 11-17 Distinct From the GAP Related Domain

Journal of Medical Genetics - United Kingdom
doi 10.1136/jmg.2003.011890
Full Text
Abstract

Available in full text

Categories
Genetics
Date
Authors
Publisher

BMJ

Related search

Frequency and Clinical Significance of NF1 Mutation in Lung Adenocarcinomas From East Asian Patients

International Journal of Cancer
Cancer ResearchOncology
2018English

Cluster Analysis in the COPDGene Study Identifies Subtypes of Smokers With Distinct Patterns of Airway Disease and Emphysema

Thorax
PulmonaryRespiratory Medicine
2014English

Exome Sequencing of Cell-Free DNA From Metastatic Cancer Patients Identifies Clinically Actionable Mutations Distinct From Primary Disease

PLoS ONE
Multidisciplinary
2015English

Mutations in the CYP11B1 Gene Causing Congenital Adrenal Hyperplasia and Hypertension Cluster in Exons 6, 7, and 8.

Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
1993English

Comparative Genomics Identifies Distinct Lineages of S. Enteritidis From Queensland, Australia

PLoS ONE
Multidisciplinary
2018English

Chromosomal Findings and Sequence Analysis of Target Exons of Calcium-Sensingreceptor (CaSR) Gene in Patients With Sagliker Syndrome

Turkish Journal of Medical Sciences
Medicine
2017English

A Search for Evidence of Somatic Mutations in the NF1 Gene

Journal of Medical Genetics
Genetics
2000English

Analysis of Resistant Mutations in Reverse Transcriptase Domain of Hepatitis B Virus From Patients From Islamabad, Pakistan

Journal of Unexplored Medical Data
2017English

Solitary Epicranial Neurofibroma With NF1-Related Germline Mutation: Case Report

Neurologia Medico-Chirurgica
SurgeryNeurology
2014English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2026 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy