CLCN7 and TCIRG1 Mutations in a Single Family: Evidence for Digenic Inheritance of Osteopetrosis

Molecular Medicine Reports - Greece
doi 10.3892/mmr.2018.9648
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Spandidos Publications

Related search

A Case of Autosomal Dominant Osteopetrosis Type II With a CLCN7 Gene Mutation

JCRPE Journal of Clinical Research in Pediatric Endocrinology
Child HealthEndocrinologyPerinatologyPediatricsMetabolismDiabetes
2019English

Expanded Circulating Hematopoietic Stem/Progenitor Cells as Novel Cell Source for the Treatment of TCIRG1 Osteopetrosis

Haematologica
Hematology
2020English

Digenic Inheritance of Myocardial Infarction Risk Implicates Dysfunctional Nitric Oxide Signaling

Circulation: Cardiovascular Genetics
2014English

Digenic Junctional Epidermolysis Bullosa: Mutations in COL17A1 and LAMB3 Genes

American Journal of Human Genetics
Genetics
1999English

Probability of Detection of Genotyping Errors and Mutations as Inheritance Inconsistencies in Nuclear-Family Data

American Journal of Human Genetics
Genetics
2002English

Investigating Functional Consequences of Novel Disease-Causing Mutations of CLCN7 Gene

Biophysical Journal
Biophysics
2019English

Digenic Mutations on SCAP and AGXT2 Predispose to Premature Myocardial Infarction

Oncotarget
Oncology
2017English

Inheritance Law and Investment in Family Firms

American Economic Review
EconomicsEconometrics
2010English

RANK-dependent Autosomal Recessive Osteopetrosis: Characterization of Five New Cases With Novel Mutations

Journal of Bone and Mineral Research
EndocrinologyOrthopedicsSports MedicineMetabolismDiabetes
2012English

Amanote Research

Note-taking for researchers

Follow Amanote

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

Privacy PolicyRefund Policy