Full Text Available
Note: Clicking the button above will open the full text document at the original institutional repository in a new window.
Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family
Saved in:
| Published in: | Application of Clinical Genetics |
|---|---|
| Format: | Online Article RSS Article |
| Published: |
2025
|
| Subjects: | |
| Tags: |
No Tags, Be the first to tag this record!
|
| _version_ | 1868552841477488640 |
|---|---|
| collection | WordPress RSS FRELIP Feed Integration |
| container_title | Application of Clinical Genetics |
| description | |
| discipline_display | Medical Geneticsx |
| discipline_facet | Medical Geneticsx |
| format | Online Article RSS Article |
| genre | Journal Article |
| id | rss_article:62493 |
| institution | FRELIP |
| journal_source_facet | Application of Clinical Genetics |
| last_indexed | 2026-06-20T21:27:21.959Z |
| publishDate | 2025 |
| publishDateSort | 2025 |
| record_format | rss_article |
| spellingShingle | Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family Medical Geneticsx General Medical Geneticsx |
| sub_discipline_display | General |
| sub_discipline_facet | General |
| subject_display | Medical Geneticsx General Medical Geneticsx |
| subject_facet | Medical Geneticsx General Medical Geneticsx |
| title | Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family |
| title_alt | Detección de una Nueva Variante de Pérdida del Codón de Parada Homocigótica de PEX5 Asociada con Síndrome de Zellweger en una Familia Altamente Endogámica Détection d'un nouveau variant homozygote stop-loss de PEX5 associé au syndrome de Zellweger dans une famille hautement consanguine Detecção de uma Nova Variante Homozigótica de Perda do Códon de Parada do PEX5 Associada à Síndrome de Zellweger em uma Família Altamente Endogâmica |
| title_auth | Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family |
| title_es_txt | Detección de una Nueva Variante de Pérdida del Codón de Parada Homocigótica de PEX5 Asociada con Síndrome de Zellweger en una Familia Altamente Endogámica |
| title_fr_txt | Détection d'un nouveau variant homozygote stop-loss de PEX5 associé au syndrome de Zellweger dans une famille hautement consanguine |
| title_full | Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family |
| title_fullStr | Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family |
| title_full_unstemmed | Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family |
| title_pt_txt | Detecção de uma Nova Variante Homozigótica de Perda do Códon de Parada do PEX5 Associada à Síndrome de Zellweger em uma Família Altamente Endogâmica |
| title_short | Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family |
| title_sort | detection of a novel homozygous pex5 stop-loss variant associated with zellweger syndrome in a highly endogamic family |
| topic | Medical Geneticsx General Medical Geneticsx |
| url | https://www.dovepress.com/detection-of-a-novel-homozygous-pex5-stop-loss-variant-associated-with-peer-reviewed-fulltext-article-TACG |