Cargando…

Modeling of a Novel Patient-Based MYO5B Point Mutation Reveals Insights Into MVID Pathogenesis

Detalles Bibliográficos
Autores principales: Burman, Andreanna, Momoh, Michael, Sampson, Leesa, Skelton, Jennifer, Roland, Joseph T., Ramos, Cynthia, Krystofiak, Evan, Acra, Sari, Goldenring, James R., Kaji, Izumi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10041088/
https://www.ncbi.nlm.nih.gov/pubmed/36592862
http://dx.doi.org/10.1016/j.jcmgh.2022.12.015
_version_ 1784912629530099712
author Burman, Andreanna
Momoh, Michael
Sampson, Leesa
Skelton, Jennifer
Roland, Joseph T.
Ramos, Cynthia
Krystofiak, Evan
Acra, Sari
Goldenring, James R.
Kaji, Izumi
author_facet Burman, Andreanna
Momoh, Michael
Sampson, Leesa
Skelton, Jennifer
Roland, Joseph T.
Ramos, Cynthia
Krystofiak, Evan
Acra, Sari
Goldenring, James R.
Kaji, Izumi
author_sort Burman, Andreanna
collection PubMed
description
format Online
Article
Text
id pubmed-10041088
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher Elsevier
record_format MEDLINE/PubMed
spelling pubmed-100410882023-03-28 Modeling of a Novel Patient-Based MYO5B Point Mutation Reveals Insights Into MVID Pathogenesis Burman, Andreanna Momoh, Michael Sampson, Leesa Skelton, Jennifer Roland, Joseph T. Ramos, Cynthia Krystofiak, Evan Acra, Sari Goldenring, James R. Kaji, Izumi Cell Mol Gastroenterol Hepatol Research Letter Elsevier 2022-12-31 /pmc/articles/PMC10041088/ /pubmed/36592862 http://dx.doi.org/10.1016/j.jcmgh.2022.12.015 Text en © 2023 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Research Letter
Burman, Andreanna
Momoh, Michael
Sampson, Leesa
Skelton, Jennifer
Roland, Joseph T.
Ramos, Cynthia
Krystofiak, Evan
Acra, Sari
Goldenring, James R.
Kaji, Izumi
Modeling of a Novel Patient-Based MYO5B Point Mutation Reveals Insights Into MVID Pathogenesis
title Modeling of a Novel Patient-Based MYO5B Point Mutation Reveals Insights Into MVID Pathogenesis
title_full Modeling of a Novel Patient-Based MYO5B Point Mutation Reveals Insights Into MVID Pathogenesis
title_fullStr Modeling of a Novel Patient-Based MYO5B Point Mutation Reveals Insights Into MVID Pathogenesis
title_full_unstemmed Modeling of a Novel Patient-Based MYO5B Point Mutation Reveals Insights Into MVID Pathogenesis
title_short Modeling of a Novel Patient-Based MYO5B Point Mutation Reveals Insights Into MVID Pathogenesis
title_sort modeling of a novel patient-based myo5b point mutation reveals insights into mvid pathogenesis
topic Research Letter
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10041088/
https://www.ncbi.nlm.nih.gov/pubmed/36592862
http://dx.doi.org/10.1016/j.jcmgh.2022.12.015
work_keys_str_mv AT burmanandreanna modelingofanovelpatientbasedmyo5bpointmutationrevealsinsightsintomvidpathogenesis
AT momohmichael modelingofanovelpatientbasedmyo5bpointmutationrevealsinsightsintomvidpathogenesis
AT sampsonleesa modelingofanovelpatientbasedmyo5bpointmutationrevealsinsightsintomvidpathogenesis
AT skeltonjennifer modelingofanovelpatientbasedmyo5bpointmutationrevealsinsightsintomvidpathogenesis
AT rolandjosepht modelingofanovelpatientbasedmyo5bpointmutationrevealsinsightsintomvidpathogenesis
AT ramoscynthia modelingofanovelpatientbasedmyo5bpointmutationrevealsinsightsintomvidpathogenesis
AT krystofiakevan modelingofanovelpatientbasedmyo5bpointmutationrevealsinsightsintomvidpathogenesis
AT acrasari modelingofanovelpatientbasedmyo5bpointmutationrevealsinsightsintomvidpathogenesis
AT goldenringjamesr modelingofanovelpatientbasedmyo5bpointmutationrevealsinsightsintomvidpathogenesis
AT kajiizumi modelingofanovelpatientbasedmyo5bpointmutationrevealsinsightsintomvidpathogenesis