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

American Journal of Human Genetics - United States
doi 10.1016/j.ajhg.2018.09.011
Full Text
Abstract

Available in full text

Categories
Genetics
Date
Authors
Publisher

Elsevier BV

Related search

Bi-Allelic Inactivating Variants in the COCH Gene Cause Autosomal Recessive Prelingual Hearing Impairment

European Journal of Human Genetics
Genetics
2018English

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

Mutations in SNRPE, Which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex

American Journal of Human Genetics
Genetics
2013English

Founder Mutations in the Lipase H Gene in Families With Autosomal Recessive Woolly Hair/Hypotrichosis

Journal of Investigative Dermatology
BiochemistryDermatologyCell BiologyMolecular Biology
2009English

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy

American Journal of Human Genetics
Genetics
2016English

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

American Journal of Human Genetics
Genetics
2010English

Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations

PLoS ONE
Multidisciplinary
2014English

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