Exome Sequencing Identified New Mutations in a Marfan Syndrome Family

Diagnostic Pathology - United Kingdom
doi 10.1186/1746-1596-9-25
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Springer Science and Business Media LLC

Related search

Family-Based Whole-Exome Sequencing Identifies Novel Loss-Of-Function Mutations of FBN1 for Marfan Syndrome

PeerJ
GeneticsMolecular BiologyBiochemistryBiological SciencesMedicineAgriculturalNeuroscience
2018English

Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families

PLoS ONE
Multidisciplinary
2013English

Novel Mutations in PRPF31 Causing Retinitis Pigmentosa Identified Using Whole-Exome Sequencing

Investigative Ophthalmology and Visual Science
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2017English

Whole Exome Sequencing Identified Sixty-Five Coding Mutations in Four Neuroblastoma Tumors

Scientific Reports
Multidisciplinary
2017English

Whole-Exome Sequencing Analysis of Waardenburg Syndrome in a Chinese Family

Human Genome Variation
BiochemistryGeneticsMolecular Biology
2017English

A Rare ANOS1 Variant in Siblings With Kallmann Syndrome Identified by Whole Exome Sequencing

Andrology
EndocrinologyReproductive MedicineUrologyMetabolismDiabetes
2017English

Whole Exome Sequencing Identified Novel CRB1 Mutations in Chinese and Indian Populations With Autosomal Recessive Retinitis Pigmentosa

Scientific Reports
Multidisciplinary
2016English

New Mutations in Flagellar Motors Identified by Whole Genome Sequencing in Chlamydomonas

Cilia
Cell Biology
2013English

Exome Sequencing Identifies Recurrent Somatic RAC1 Mutations in Melanoma

Nature Genetics
Genetics
2012English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy