Alu elements mediate large SPG11 gene rearrangements: Further spatacsin mutations

Genetics in Medicine

Volumn 14, Issue 1, 2012, Pages 143-151

  Conceiço Pereira, Maria ^a   Loureiro, José Leal ^a,b   Pinto Basto, Jorge ^a,c   Brando, Eva ^a,b   Margarida Lopes, Ana ^a   Neves, Georgina ^d   Dias, Pureza ^e   Geraldes, Ruth ^f   Martins, Isabel Pavo ^f   Cruz, Vitor Tedim ^b   Kamsteeg, Erik Jan ^g   Brunner, Han G ^g   Coutinho, Paula ^a,b   Sequeiros, Jorge ^a,c   Alonso, Isabel ^a,c  

^a UNIVERSITY OF PORTO   (Portugal)

^b Hospital So Sebastio   (Portugal)

^c UNIVERSITY OF PORTO   (Portugal)

^d Centro Hospitalar de Vila Real Peso Da Régua   (Portugal)

^e Hospital Santo André de Leiria   (Portugal)

^f HOSPITAL DE SANTA MARIA   (Portugal)

^g RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Alu mediated nonallelic homologous recombination; hereditary spastic paraplegia; large gene rearrangements; spatacsin; SPG11

Indexed keywords

PROTEIN; SPATACSIN; UNCLASSIFIED DRUG;

ALU SEQUENCE; ARTICLE; FEMALE; GENE; GENE AMPLIFICATION; GENE DELETION; GENE MAPPING; GENE MUTATION; GENE REARRANGEMENT; GENETIC RECOMBINATION; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; SPG11 GENE;

ADOLESCENT; ADULT; ALLELES; ALU ELEMENTS; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHROMOSOME BREAKPOINTS; EXONS; FEMALE; GENE ORDER; GENOTYPE; HUMANS; INFANT; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEINS; SEQUENCE DELETION; SPASTIC PARAPLEGIA, HEREDITARY; YOUNG ADULT;

EID: 84855558170     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2011.7     Document Type: Article

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