Telomerase Reverse-Transcriptase Homozygous Mutations in Autosomal Recessive Dyskeratosis Congenita and Hoyeraal-Hreidarsson Syndrome

Blood - United States
doi 10.1182/blood-2006-12-062851
Full Text
Abstract

Available in full text

Date
Authors
Publisher

American Society of Hematology

Related search

Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita

Ophthalmic Surgery Lasers and Imaging Retina
MedicineOphthalmologySurgery
2016English

Mutations in the Telomerase Component NHP2 Cause the Premature Ageing Syndrome Dyskeratosis Congenita

Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
2008English

Phenotype in Homozygous and Heterozygous Carriers of BEST1 Mutations in Autosomal Recessive Bestrophinopathy

Acta Ophthalmologica
MedicineOphthalmology
2018English

Mutations inTERT,the Gene for Telomerase Reverse Transcriptase, in Aplastic Anemia

New England Journal of Medicine
Medicine
2005English

Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

American Journal of Human Genetics
Genetics
2013English

A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome

PLoS Genetics
EvolutionEcologyGeneticsMolecular BiologyCancer ResearchSystematicsBehavior
2013English

Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome

American Journal of Human Genetics
Genetics
2014English

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

American Journal of Human Genetics
Genetics
2010English

One-Step Noninvasive Prenatal Testing (NIPT) for Autosomal Recessive Homozygous Point Mutations Using Digital PCR

Scientific Reports
Multidisciplinary
2018English

Amanote Research

Note-taking for researchers

Follow Amanote

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

Privacy PolicyRefund Policy