An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5′ untranslated region of the PAFAH1B1 (LIS1) gene

Human Genomics

Volumn 4, Issue 6, 2010, Pages 384-393

  Millar, David S ^a   Tysoe, Carolyn ^b   Lazarou, Lazarus P ^c   Pilz, Daniela T ^c   Mohammed, Shehla ^d   Anderson, Katharine ^e   Chuzhanova, Nadia ^f   Cooper, David N ^a   Butler, Rachel ^c  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b ROYAL DEVON AND EXETER NHS FOUNDATION TRUST   (United Kingdom)

^c UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^d GUY S HOSPITAL   (United Kingdom)

^e BRIGHTON GENERAL HOSPITAL   (United Kingdom)

^f NOTTINGHAM TRENT UNIVERSITY   (United Kingdom)

Author keywords

insertion; lissencephaly; mitochondrial genome; PAFAH1B1 gene

Indexed keywords

NUCLEOTIDE;

AGYRIA; ARTICLE; BASE MISPAIRING; CHROMOSOME 1; DNA SEQUENCE; GENE; GENE INSERTION SEQUENCE; GENE MUTATION; GENE SEQUENCE; LIS1 GENE; MITOCHONDRIAL GENOME; POLYMERASE CHAIN REACTION; PROMOTER REGION; SEQUENCE HOMOLOGY; TRANSLATION INITIATION; UNTRANSLATED REGION;

EID: 85027944706     PISSN: 14739542     EISSN: 14797364     Source Type: Journal    
DOI: 10.1186/1479-7364-4-6-384     Document Type: Article

References (0)