Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy

American Journal of Human Genetics - United States
doi 10.1086/318208
Full Text
Abstract

Available in full text

Categories
Genetics
Date
Authors
Publisher

Elsevier BV

Related search

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

American Journal of Human Genetics
Genetics
2012English

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

American Journal of Human Genetics
Genetics
2011English

P569 Dejerine-Sottas Syndrome and Cranio-Facial Dysmorphisms: A Case Report

2019English

Mutations in XRCC1 Cause Cerebellar Ataxia and Peripheral Neuropathy

Journal of Neurology, Neurosurgery and Psychiatry
PsychiatryMental HealthNeurologySurgery
2018English

Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

American Journal of Human Genetics
Genetics
2010English

Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

American Journal of Human Genetics
Genetics
2018English

Non-Syndromic Recessive Auditory Neuropathy Is the Result of Mutations in the Otoferlin (OTOF) Gene

Journal of Medical Genetics
Genetics
2003English

Mutations in KARS Cause a Severe Neurological and Neurosensory Disease With Optic Neuropathy

Human Mutation
Genetics
2019English

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

American Journal of Human Genetics
Genetics
2015English

Amanote Research

Note-taking for researchers

Follow Amanote

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

Privacy PolicyRefund Policy