Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

American Journal of Human Genetics - United States
doi 10.1016/j.ajhg.2011.05.008
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

Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts

PLoS ONE
Multidisciplinary
2017English

Functional Study ofTGM1missense Mutations in Autosomal Recessive Congenital Ichthyosis

Experimental Dermatology
BiochemistryDermatologyMolecular Biology
2016English

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

American Journal of Human Genetics
Genetics
2010English

Transglutaminase 1 Mutations in Autosomal Recessive Congenital Ichthyosis: Private and Recurrent Mutations in an Isolated Population

American Journal of Human Genetics
Genetics
1997English

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

American Journal of Human Genetics
Genetics
2018English

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

American Journal of Human Genetics
Genetics
2015English

Novel Mutations of TMPRSS3 in Four DFNB8/B10 Families Segregating Congenital Autosomal Recessive Deafness

Journal of Medical Genetics
Genetics
2001English

Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia

2020English

Amanote Research

Note-taking for researchers

Follow Amanote

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

Privacy PolicyRefund Policy