LMX1B 17-bp deletion and A3243G mtDNA transition in a previously described patient

European Neurology

Volumn 49, Issue 3, 2003, Pages 186-187

  Finsterer, Josef ^a,c   Stöllberger, Claudia ^b  

^a Krankenhaus Hietzing mit Neurologischem Zentrum Rosenhugel   (Austria)

^b KRANKENANSTALT RUDOLFSTIFTUNG   (Austria)

^c NONE   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; PROTEIN; PROTEIN LMX1B; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; DNA DETERMINATION; FRAMESHIFT MUTATION; GENE DELETION; HUMAN; LABORATORY TEST; MALE; NAIL PATELLA SYNDROME; PHENOTYPE; PRIORITY JOURNAL;

BASE SEQUENCE; DNA, MITOCHONDRIAL; GENE DELETION; HOMEODOMAIN PROTEINS; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL DISEASES; NAIL-PATELLA SYNDROME; TRANSCRIPTION FACTORS;

EID: 0037235166     PISSN: 00143022     EISSN: None     Source Type: Journal    
DOI: 10.1159/000069078     Document Type: Article

References (5)

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2. Finsterer J, Stöllberger C, Wanschitz J, Jaksch M, Budka H: Nail-patella syndrome associated with respiratory chain disorder. Eur Neurol 2001;46:92-95.
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5. Hamlington JD, Jones C, McIntosh I: Twenty-two novel LMX1B mutations identified in nail-patella syndrome (NPS) patients. Hum Mutat 2001: No 453 online.