Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis

American Journal of Pathology

Volumn 162, Issue 1, 2003, Pages 57-68

  Taranta, Anna ^a   Migliaccio, Silvia ^b,c   Recchia, Irene ^b   Caniglia, Maurizio ^d   Luciani, Matteo ^d   De Rossi, Giulio ^d   Dionisi Vici, Carlo ^d   Pinto, Rita M ^d   Francalanci, Paola ^d   Boldrini, Renata ^d   Lanino, Edoardo ^e   Dini, Giorgio ^e   Morreale, Giuseppe ^e   Ralston, Stuart H ^h   Villa, Anna ^f   Vezzoni, Paolo ^f   Del Principe, Domenico ^g   Cassiani, Flaminia ^g   Palumbo, Giuseppe ^g   Teti, Anna ^b,i  

^a LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^b UNIVERSITY OF L'AQUILA   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e UNIVERSITY OF GENOA   (Italy)

^f CNR   (Italy)

^g UNIVERSITY OF ROME TOR VERGATA   (Italy)

^h UNIVERSITY OF ABERDEEN   (United Kingdom)

ⁱ Department of Experimental Medicine ^*  (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ACID PHOSPHATASE TARTRATE RESISTANT ISOENZYME; ACTIN; ALKALINE PHOSPHATASE; PARATHYROID HORMONE; PROTEIN SUBUNIT;

ALBERS SCHOENBERG DISEASE; ARTICLE; ATP6I GENE; AUTOSOMAL RECESSIVE DISORDER; BONE BIOPSY; CASE REPORT; CONTROLLED STUDY; GENE; GENOTYPE; GROWTH RETARDATION; HEMATOPOIETIC CELL; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOREACTIVITY; MACROCEPHALY; MORPHOLOGY; NUCLEOTIDE SEQUENCE; OPTIC NERVE; OSTEOBLAST; OSTEOSCLEROSIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 0037222822     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9440(10)63798-4     Document Type: Article

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