Buried in the middle but guilty: Intronic mutations in the TCIRG1 gene cause human autosomal recessive osteopetrosis

Journal of Bone and Mineral Research

Volumn 30, Issue 10, 2015, Pages 1814-1821

  Palagano, Eleonora ^a,b   Blair, Harry C ^c   Pangrazio, Alessandra ^a,b   Tourkova, Irina ^c   Strina, Dario ^a,b   Angius, Andrea ^d,e   Cuccuru, Gianmauro ^d   Oppo, Manuela ^d   Uva, Paolo ^d   Van Hul, Wim ^f   Boudin, Eveline ^f   Superti Furga, Andrea ^g   Faletra, Flavio ^h   Nocerino, Agostino ⁱ   Ferrari, Matteo C ^b   Grappiolo, Guido ^b   Monari, Marta ^b   Montanelli, Alessandro ^b   Vezzoni, Paolo ^a,b   Villa, Anna ^a,b   Sobacchi, Cristina ^a,b   more..

^a CNR   (Italy)

^b HUMANITAS CLINICAL AND RESEARCH CENTER   (Italy)

^c UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^d CENTER FOR ADVANCED STUDIES   (Italy)

^e Milan Unit   (Italy)

^f UNIVERSITY OF ANTWERP   (Belgium)

^g LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^h INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

ⁱ SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

Author keywords

autosomal recessive osteopetrosis; exome; hypomorphic mutation; splicing defect; TCIRG1

Indexed keywords

NUCLEOTIDE; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; RNA SPLICING; TCIRG1 PROTEIN, HUMAN;

ADULT; ALBERS SCHOENBERG DISEASE; ALLELE; ALTERNATIVE RNA SPLICING; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE OSTEOPETROSIS; CHILD; CLINICAL ARTICLE; EXON; FEMALE; GENE; GENE MUTATION; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INCIDENTAL FINDING; INTRON; MALE; MOLECULAR GENETICS; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; PATHOGENESIS; SCHOOL CHILD; SIBLING; TCIRG1 GENE; YOUNG ADULT; BIOSYNTHESIS; GENETIC DISORDER; GENETICS; METABOLISM; POINT MUTATION; RADIOGRAPHY; RNA SPLICING;

ADULT; FEMALE; GENETIC DISEASES, INBORN; HUMANS; INTRONS; MALE; OSTEOPETROSIS; POINT MUTATION; RNA SPLICE SITES; VACUOLAR PROTON-TRANSLOCATING ATPASES;

EID: 84942199592     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.2517     Document Type: Article

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