Código QR (código de barras bidimensional)

A Novel Homozygous Founder Variant of <i>RTN4IP1</i> in Two Consanguineous Saudi Families

The genetic architecture of mitochondrial disease continues to expand and currently exceeds more than 350 disease-causing genes. Bi-allelic variants in <i>RTN4IP1</i>, also known as Optic Atrophy-10 (OPA10), lead to early-onset recessive optic neuropathy, atrophy, and encephalopathy in the afflicted...

ver descrição completa

Na minha lista:
Principais autores: Mazhor Aldosary, Maysoon Alsagob, Hanan AlQudairy, Ana C. González-Álvarez, Stefan T. Arold, Mohammad Anas Dababo, Omar A. Alharbi, Rawan Almass, AlBandary AlBakheet, Dalia AlSarar, Alya Qari, Mysoon M. Al-Ansari, Monika Oláhová, Saif A. Al-Shahrani, Moeenaldeen AlSayed, Dilek Colak, Robert W. Taylor, Mohammed AlOwain, Namik Kaya
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI AG 2022-10-01
coleção:Cells
Assuntos:
<i>RTN4IP1</i>
founder variant
missense
age of variant
encephalopathy
optic atrophy
Acesso em linha:https://www.mdpi.com/2073-4409/11/19/3154
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registros relacionados