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

American Journal of Human Genetics - United States
doi 10.1016/j.ajhg.2012.10.022
Full Text
Abstract

Available in full text

Categories
Genetics
Date
Authors
Publisher

Elsevier BV

Related search

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

American Journal of Human Genetics
Genetics
2018English

Mutations in SEC63 Cause Autosomal Dominant Polycystic Liver Disease

Nature Genetics
Genetics
2004English

Mutations in KCNJ13 Cause Autosomal-Dominant Snowflake Vitreoretinal Degeneration

American Journal of Human Genetics
Genetics
2008English

Novel Truncation Mutations in MYRF Cause Autosomal Dominant High Hyperopia Mapped to 11p12–q13.3

Human Genetics
Genetics
2019English

Novel Cationic Trypsinogen (PRSS1) N29T and R122C Mutations Cause Autosomal Dominant Hereditary Pancreatitis

Gut
Gastroenterology
2002English

Autosomal-Dominant Hypotrichosis With Woolly Hair: Novel Gene Locus on Chromosome 4q35.1-Q35.2

PLoS ONE
Multidisciplinary
2019English

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 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

Amanote Research

Note-taking for researchers

Follow Amanote

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

Privacy PolicyRefund Policy