LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

Source :

• Human Mutation [ 1059-7794 ] ; 2010-07.

Descripteurs français

• Wicri :
  • topic : Petite enfance, Glucose.

English descriptors

• KwdEn :
  • Barth syndrome, Caucasian origin, Cdna, Common haplotype, Complete medium, Cpt2, Cpt2 activity, Deleterious nature, Deletion, Dual roles, Early childhood, Exon, Fasting, Fatty acid oxidation, Febrile illnesses, Founder effect, Gene expression, Genomic, Glucose, Hba1c level, High frequency, Intragenic, Intragenic deletion, Intragenic lpin1 deletion, Lipid, Lipid metabolism, Local anaesthetic, Long range, Lpin1, Lpin1 gene, Lpin1 intragenic deletion, Lpin1 mutations, Lxxil motifs, Major cause, Metabolic, Metabolic diseases, Metabolic investigations, Mitochondrial, Multiple roles, Muscle biopsy, Mutation, Myoglobinuria, Myoglobinuric patients, Necker hospital, Nonsense mutations, Novel cause, Pah1, Pah1 cells, Pah1 yeast strain, Phospholipid, Plasmid encoding, Reue, Rhabdomyolysis, Severe myoglobinuria, Severe rhabdomyolysis, Skeletal muscle, Skeletal muscle biopsy, Wild type cells, Yeast, Yeast cells, Yeast complementation assay, Young patients, Zeharia.
• Teeft :
  • Barth syndrome, Caucasian origin, Cdna, Common haplotype, Complete medium, Cpt2, Cpt2 activity, Deleterious nature, Deletion, Dual roles, Early childhood, Exon, Fasting, Fatty acid oxidation, Febrile illnesses, Founder effect, Gene expression, Genomic, Glucose, Hba1c level, High frequency, Intragenic, Intragenic deletion, Intragenic lpin1 deletion, Lipid, Lipid metabolism, Local anaesthetic, Long range, Lpin1, Lpin1 gene, Lpin1 intragenic deletion, Lpin1 mutations, Lxxil motifs, Major cause, Metabolic, Metabolic diseases, Metabolic investigations, Mitochondrial, Multiple roles, Muscle biopsy, Mutation, Myoglobinuria, Myoglobinuric patients, Necker hospital, Nonsense mutations, Novel cause, Pah1, Pah1 cells, Pah1 yeast strain, Phospholipid, Plasmid encoding, Reue, Rhabdomyolysis, Severe myoglobinuria, Severe rhabdomyolysis, Skeletal muscle, Skeletal muscle biopsy, Wild type cells, Yeast, Yeast cells, Yeast complementation assay, Young patients, Zeharia.

Abstract

• https://api.istex.fr/document/6FF43B518C71E2A89A7019E1A1363AEB637F457E/fulltext/pdf

Links toward previous steps (curation, corpus...)

• to stream Istex, to step Corpus: 001502
• to stream Istex, to step Curation: 001502
• to stream Istex, to step Checkpoint: 000B70

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Merge

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 007789 | SxmlIndent | more

Ou

HfdSelect -h $EXPLOR_AREA/Data/Main/Merge/biblio.hfd -nk 007789 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Asie
   |area=    AustralieFrV1
   |flux=    Main
   |étape=   Merge
   |type=    RBID
   |clé=     ISTEX:6FF43B518C71E2A89A7019E1A1363AEB637F457E
   |texte=   LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood
}}

This area was generated with Dilib version V0.6.33. Data generation: Tue Dec 5 10:43:12 2017. Site generation: Tue Mar 5 14:07:20 2024