Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis

Bone

Volumn 59, Issue , 2014, Pages 122-126

  Pangrazio, Alessandra ^a,b   Puddu, Alessandro ^a,c   Oppo, Manuela ^c   Valentini, Maria ^c   Zammataro, Luca ^b   Vellodi, Ashok ^d   Gener, Blanca ^e   Llano Rivas, Isabel ^e   Raza, Jamal ^f   Atta, Irum ^f   Vezzoni, Paolo ^a,b   Superti Furga, Andrea ^g   Villa, Anna ^a,b   Sobacchi, Cristina ^a,b  

^a CNR   (Italy)

^b HUMANITAS CLINICAL AND RESEARCH CENTER   (Italy)

^c CENTER FOR ADVANCED STUDIES   (Italy)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e BIOCRUCES BIZKAIA HEALTH RESEARCH INSTITUTE   (Spain)

^f NATIONAL INSTITUTE OF CHILD HEALTH   (Pakistan)

^g LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

CTSK; Differential diagnosis; Exome sequencing; Sclerosing bone disorder; Therapy

Indexed keywords

CALCITRIOL; CATHEPSIN K; GENOMIC DNA; STEROID;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ADOLESCENT; ALBERS SCHOENBERG DISEASE; ANEMIA; ARNOLD CHIARI MALFORMATION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLOOD TRANSFUSION; CHILD; CLINICAL ARTICLE; CONSANGUINITY; CTSK GENE; EXOME; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GROWTH RETARDATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; MOLECULAR DIAGNOSIS; NUCLEOTIDE SEQUENCE; PYCNODYSOSTOSIS; SCHOOL CHILD;

CTSK; DIFFERENTIAL DIAGNOSIS; EXOME SEQUENCING; SCLEROSING BONE DISORDER; THERAPY;

CATHEPSIN K; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; HUMANS; MALE; MUTATION; OSTEOPETROSIS; YOUNG ADULT;

EID: 84889560860     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2013.11.014     Document Type: Article

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