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Volumn 8, Issue 4, 2007, Pages 317-318
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An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion
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Author keywords
[No Author keywords available]
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Indexed keywords
PROTEIN;
SPG3A PROTEIN;
SPG4 PROTEIN;
UNCLASSIFIED DRUG;
AUTOSOMAL DOMINANT DISORDER;
EXON;
GENE DELETION;
HEREDITARY MOTOR SENSORY NEUROPATHY;
HUMAN;
LETTER;
MISSENSE MUTATION;
ONSET AGE;
PATHOGENESIS;
PHENOTYPE;
PRIORITY JOURNAL;
PROTEIN EXPRESSION;
ADENOSINE TRIPHOSPHATASES;
ADULT;
CHILD;
EXONS;
FEMALE;
GENE DELETION;
GTP PHOSPHOHYDROLASES;
HUMANS;
MALE;
PEDIGREE;
PHENOTYPE;
SPASTIC PARAPLEGIA, HEREDITARY;
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EID: 35448996983
PISSN: 13646745
EISSN: None
Source Type: Journal
DOI: 10.1007/s10048-007-0099-8 Document Type: Letter |
Times cited : (6)
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References (8)
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