Novel splice-site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy

Clinical Genetics

Volumn 78, Issue 5, 2010, Pages 432-440

  Tonelli, A ^a   Romaniello, R ^b   Grasso, R ^b   Cavallini, A ^b   Righini, A ^c   Bresolin, N ^a,d   Borgatti, R ^b   Bassi, M T ^a  

^a Molecular Biology Laboratory   (Italy)

^b SCIENTIFIC INSTITUTE   (Italy)

^c V BUZZI CHILDREN S HOSPITAL   (Italy)

^d UNIVERSITY OF MILAN   (Italy)

Author keywords

Alu; Intragenic deletion; Mutation; NAHR; PLA2G6

Indexed keywords

CALCIUM INDEPENDENT PHOSPHOLIPASE A2; CALCIUM INDEPENDENT PHOSPHOLIPASE A2 G6; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; DISEASE COURSE; DISEASE SEVERITY; EXON; GENE DELETION; GENE INSERTION; GENE REARRANGEMENT; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOLOGOUS RECOMBINATION; HUMAN; INFANT; NEUROAXONAL DYSTROPHY; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NEURORADIOLOGY; NON ALLELIC HOMOLOGOUS RECOMBINATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE ANALYSIS;

BASE SEQUENCE; CHILD, PRESCHOOL; GROUP VI PHOSPHOLIPASES A2; HUMANS; INFANT; IRON; NEUROAXONAL DYSTROPHIES; RNA SPLICING; SEQUENCE DELETION;

EID: 78149256394     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01417.x     Document Type: Article

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