A Novel Missense Mutation in ANO5/TMEM16E Is Causative for Gnathodiaphyseal Dyplasia in a Large Italian Pedigree

European Journal of Human Genetics - United Kingdom
doi 10.1038/ejhg.2012.224
Full Text
Abstract

Available in full text

Categories
Genetics
Date
Authors
Publisher

Springer Science and Business Media LLC

Related search

A Novel Mutation (LEU396ARG) in OPA1 Is Associated With a Severe Phenotype in a Large Dominant Optic Atrophy Pedigree

Eye
MedicineArtsSensory SystemsOphthalmologyHumanities
2018English

A Novel Missense Mutation in USP26 Gene Is Associated With Nonobstructive Azoospermia

Reproductive Sciences
GynecologyObstetrics
2016English

Phenotypic Expression of Heterozygous Lipoprotein Lipase Deficiency in the Extended Pedigree of a Proband Homozygous for a Missense Mutation.

Journal of Clinical Investigation
Medicine
1990English

A Novel GJB1 Mutation Associated With X‐linked Charcot–Marie–Tooth Disease in a Large Chinese Family Pedigree

Molecular genetics & genomic medicine
GeneticsMolecular Biology
2020English

Novel EXT1 Mutation Identified in a Pedigree With Hereditary Multiple Exostoses

Oncology Reports
MedicineCancer ResearchOncology
2013English

Glaucoma Phenotype in a Large Swiss Pedigree With the Myocilin Gly367Arg Mutation

Eye
MedicineArtsSensory SystemsOphthalmologyHumanities
2007English

A Novel Missense Mutation of COL5A2 in a Patient With Ehlers–Danlos Syndrome

Human Genome Variation
BiochemistryGeneticsMolecular Biology
2016English

A Case of ALS-FTD in a Large FALS Pedigree With a K17I ANG Mutation

Neurology
Neurology
2009English

A Novel Missense Mutation of F 9 Gene in Hemophilia B Patients

Journal of Blood Disorders & Transfusion
2017English

Amanote Research

Note-taking for researchers

Follow Amanote

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

Privacy PolicyRefund Policy