A polymorphic AT-repeat causes frequent allele dropout for an <i>MME</i> mutational hotspot exon-Reference-Cited by-同舟云学术

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A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon

Published:2022-03-22 Issue:10 Volume:59 Page:1024-1026
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Høyer Helle^ORCID,Hilmarsen Hilde T,Sunder-Plassmann Raute,Braathen Geir J,Andersen Peter M,Beetz Christian^ORCID,Hacker Sandra,Holla Øystein L^ORCID,Kurth Ingo,Löscher Wolfgang N,Reiter Simone B C F,Rudnik-Schöneborn Sabine,Strand Linda,Windhager Reinhard,Witsch-Baumgartner Martina,Senderek Jan,Auer-Grumbach Michaela

Funder

Horizon 2020 Framework Programme

Deutsche Forschungsgemeinschaft

Helse Sør-Øst RHF

Austrian Science Fund

Fritz-Thyssen-Stiftung

Bundesministerium für Bildung und Forschung

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference5 articles.

1. Mutations in MME cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2

2. Rare Variants in MME , Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies

3. The genetic landscape of axonal neuropathies in the middle-aged and elderly

4. Hereditary axonal neuropathy related to MME gene mutation in a family with fetomaternal alloimmune glomerulonephritis

5. Risk of Misdiagnosis Due to Allele Dropout and False-Positive PCR Artifacts in Molecular Diagnostics

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A deep intronic variant in MME causes autosomal recessive Charcot–Marie–Tooth neuropathy through aberrant splicing;Journal of the Peripheral Nervous System;2024-06

2. A deep intronic variant inMMEcauses autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing;2024-04-24

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