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KAPHAN , Elsa

Last name: KAPHAN

First name: Elsa

2021 (v1)

Publication

Metadata-only

From early limbic inflammation to long COVID sequelae

Guedj, Eric Morbelli, Silvia Kaphan, Elsa

No description

Uploaded on: April 14, 2023
April 2014 (v1)

Journal article

Metadata-only

Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.

Rouzier, Cécile Chaussenot, Annabelle Serre, Valérie

Polymerase gamma (POLG) is the gene most commonly involved in mitochondrial disorders with mitochondrial DNA instability and causes a wide range of diseases with recessive or dominant transmission. More than 170 mutations have been reported. Most of them are missense mutations, although nonsense mutations, splice-site mutations, small deletions...

Uploaded on: December 2, 2022
April 2014 (v1)

Journal article

Metadata-only

Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.

Rouzier, Cécile Chaussenot, Annabelle Serre, Valérie

Polymerase gamma (POLG) is the gene most commonly involved in mitochondrial disorders with mitochondrial DNA instability and causes a wide range of diseases with recessive or dominant transmission. More than 170 mutations have been reported. Most of them are missense mutations, although nonsense mutations, splice-site mutations, small deletions...

Uploaded on: October 11, 2023