A novel nonstop mutation in TYMP does not induce nonstop mRNA decay in a MNGIE patient with severe neuropathy

Human Mutation

Volumn 32, Issue 4, 2011, Pages

  Torres Torronteras, Javier ^a,d   Rodriguez Palmero, Agustí ^b   Pinós, Tomàs ^a,d   Accarino, Anna ^a,c   Andreu, Antoni L ^a,d   Pintos Morell, Guillem ^b   Martíí, Ramon ^a,d  

^a HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^b HOSPITAL UNIVERSITARI GERMANS TRIAS I PUJOL   (Spain)

^c INSTITUTO DE SALUD CARLOS III   (Spain)

^d INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

MNGIE; Neuropathy; Nonstop mediated decay; Nonstop mutation; NSD; TYMP

Indexed keywords

IMMUNOGLOBULIN; MESSENGER RNA; THYMIDINE PHOSPHORYLASE;

ADOLESCENT; ARTICLE; CASE REPORT; FEMALE; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MNGIE SYNDROME; NONSTOP MUTATION; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RNA DEGRADATION; STOP CODON; WESTERN BLOTTING; WILD TYPE;

ADOLESCENT; BASE SEQUENCE; FEMALE; HOMOZYGOTE; HUMANS; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MOLECULAR SEQUENCE DATA; MUTATION; RNA STABILITY; RNA, MESSENGER; THYMIDINE PHOSPHORYLASE;

MAMMALIA;

EID: 79952751213     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21447     Document Type: Article

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