Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients

Journal of Bone and Mineral Research

Volumn 24, Issue 1, 2009, Pages 162-167

  Pangrazio, Alessandra ^a,b   Caldana, Maria Elena ^a,b   Sobacchi, Cristina ^a,b   Panaroni, Cristina ^a,b   Susani, Lucia ^a,b   Mihci, Ercan ^c   Cavaliere, Maria Luigia ^d   Giliani, Silvia ^e   Villa, Anna ^a,b   Frattini, Annalisa ^a,b  

^a CNR   (Italy)

^b HUMANITAS CLINICAL AND RESEARCH CENTER   (Italy)

^c AKDENIZ UNIVERSITY   (Turkey)

^d CARDARELLI HOSPITAL   (Italy)

^e UNIVERSITY OF BRESCIA   (Italy)

Author keywords

Alu repeats; Autosomal recessive osteopetrosis; Genomic deletion; Osteopetrosis; TCIRG1

Indexed keywords

DNA;

ALLELE; ALU SEQUENCE; ARTICLE; DNA RECOMBINATION; FAMILY; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; HAPLOTYPE; HETEROZYGOSITY; HUMAN; INTRON; OSTEOPOROSIS; PLESIOMORPHY;

ALU ELEMENTS; BASE SEQUENCE; CONSANGUINITY; FAMILY HEALTH; GENE DELETION; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; ITALY; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; OSTEOPETROSIS; RECOMBINATION, GENETIC; TURKEY; VACUOLAR PROTON-TRANSLOCATING ATPASES;

EID: 58149086876     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.080818     Document Type: Article

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