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Biochemical and Biophysical Research Communications

Volumn 245, Issue 2, 1998, Pages 519-522

A novel insertion mutation (A(169i)) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient

(7) Santorelli, Filippo M a Bertini, Enrico a Petruzzella, Vittoria a Capua, Matteo Di a Calvieri, Stefano b Gasparini, Paolo c Zeviani, Massimo a,d

a BAMBINO GESÙ CHILDREN S HOSPITAL (Italy)

b SAPIENZA UNIVERSITY OF ROME (Italy)

c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL (Italy)

d DEPARTMENT OF NEUROSURGERY (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; PALMITOYL PROTEIN THIOESTERASE; THIOL ESTER HYDROLASE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; BRAIN ATROPHY; CASE REPORT; CELL ULTRASTRUCTURE; CONTROLLED STUDY; DNA SEQUENCE; ENDOTHELIUM CELL; GENE INSERTION; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; NEURONAL CEROID LIPOFUSCINOSIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN FIBROBLAST; STOP CODON;

EID: 0032540131 PISSN: 0006291X EISSN: None Source Type: Journal
DOI: 10.1006/bbrc.1998.8484 Document Type: Article

Times cited : (20)

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