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

Human Genetics- Germany

doi 10.1007/s00439-019-02039-z

Full Text

Abstract

Available in

Categories

Date

June 6, 2019

Authors

J. Fielding Hejtmancik

Qingjiong Zhang

Publisher

Springer Science and Business Media LLC

Related search

Mutations in SEC63 Cause Autosomal Dominant Polycystic Liver Disease

Nature Genetics

English

Mutations in KCNJ13 Cause Autosomal-Dominant Snowflake Vitreoretinal Degeneration

American Journal of Human Genetics

English

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

Gastroenterology

English

Autosomal Dominant Hereditary Spastic Paraplegia: Novel Mutations in the REEP1 Gene (SPG31)

BMC Medical Genetics

English

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2 (CMT2G) Maps to Chromosome 12q12-Q13.3

Journal of Medical Genetics

English

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

American Journal of Human Genetics

English

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

American Journal of Human Genetics

English

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

American Journal of Human Genetics

English

Phenotypic Behavior of Caveolin-3 Mutations That Cause Autosomal Dominant Limb Girdle Muscular Dystrophy (LGMD-1C)

Journal of Biological Chemistry

Molecular Biology

English