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Article

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing.

Human mutation - 1 Aug 2010

Lalonde Emilie, Albrecht Steffen, Ha Kevin C H, Jacob Karine, Bolduc Nathalie, Polychronakos Constantin, Dechelotte Pierre, Majewski Jacek, Jabado Nada

Abstract excerpt

Protein coding genes constitute approximately 1% of the human genome but harbor 85% of the mutations with large effects on disease-related traits. Therefore, efficient strategies for selectively sequencing complete coding regions (i.e., "whole exome") have the potential to contribute our understanding of human diseases. We used a method for whole-exome sequencing coupling Agilent whole-exome capture to the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20518025
DOI: 10.1002/humu.21293

Genes

FLVCR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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