Unusually Long Duration and Delayed Penetrance in a Family With FTD and Mutation inMAPT(V337M)

American Journal of Medical Genetics, Part B, Neuropsychiatric Genetics - United States
doi 10.1002/ajmg.b.32443
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Wiley

Related search

Hereditary Elliptocytosis With Variable Expression and Incomplete Penetrance in a Chinese Family

British Journal of Haematology
Hematology
2019English

Familial Mutation in Caffey Disease With Reduced Penetrance: A Case Report

Turkish Journal of Pediatrics
Child HealthPediatricsPerinatology
2016English

A Case of ALS-FTD in a Large FALS Pedigree With a K17I ANG Mutation

Neurology
Neurology
2009English

An Intronic Mutation Is Associated With Prolactinoma in a Young Boy, Decreased Penetrance in His Large Family, and Variable Effects onMEN1 mRNAand Protein

Hormone and Metabolic Research
BiochemistryEndocrinologyClinical BiochemistryMedicineMetabolismDiabetes
2009English

An Unusually Low Microsatellite Mutation Rate in Dictyostelium Discoideum, an Organism With Unusually Abundant Microsatellites

Genetics
Genetics
2007English

TMEM106B Regulates Progranulin Levels and the Penetrance of FTLD in GRN Mutation Carriers

Neurology
Neurology
2011English

Identification of a Novel Mevalonate Kinase Gene Mutation in Combination With the Common MVK V377I Substitution and the Low-Penetrance TNFRSF1A R92Q Mutation

European Journal of Human Genetics
Genetics
2004English

A Novel Mutation in the Connexin 46 Gene Causes Autosomal Dominant Congenital Cataract With Incomplete Penetrance

Journal of Medical Genetics
Genetics
2004English

A Novel KCNA1 Mutation in a Family With Episodic Ataxia and Malignant Hyperthermia

Neurogenetics
Molecular NeuroscienceGeneticsCellular
2016English

Amanote Research

Note-taking for researchers

Follow Amanote

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

Privacy PolicyRefund Policy