The mutational spectrum of human malignant autosomal recessive osteopetrosis

• Published in: Human molecular genetics Vol. 10; no. 17; pp. 1767 - 1773
• Main Authors: SOBACCHI, Cristina, FRATTINI, Annalisa, DUPUIS-GIROD, Sophie, ELLIS, Ian, ETZIONI, Amos, FASTH, Anders, FISHER, Alain, GERRITSEN, Bert, GULINO, Virginia, HORWITZ, Edwin, KLAMROTH, Verena, LANINO, Edoardo, ORCHARD, Paul, MIROLO, Massimiliano, MUSIO, Antonio, MATTHIJS, Gert, NONOMAYA, Shigeaki, NOTARANGELO, Luigi D, OCHS, Hans D, SUPERTI FURGA, Andrea, VALIAHO, Jouni, VAN HOVE, Johan L. K, VIHINEN, Mauno, PORRAS, Oscar, VUJIC, Dragana, VEZZONI, Paolo, VILLA, Anna, TEZCAN, Ilhan, ANDOLINA, Marino, BABUL-HIRJI, Riyana, BARIC, Ivo, CANHAM, Natalie, CHITAYAT, David
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 15.08.2001
• Subjects: Amino Acid Sequence; Animals; ATP6i gene; Base Sequence; Biological and medical sciences; Cell Line; Chloride Channels - genetics; Chromosomes, Human, Pair 11; DNA Mutational Analysis; Exons; Female; Fundamental and applied biological sciences. Psychology; Genes, Recessive; Haplotypes; Humans; Infant; Infant, Newborn; Introns; Male; Molecular and cellular biology; Molecular Sequence Data; Mutation; Osteopetrosis - enzymology; Osteopetrosis - genetics; Polymerase Chain Reaction; Sequence Homology, Amino Acid; TCIRG1 gene; Vacuolar Proton-Translocating ATPases - genetics; Vacuoles - enzymology; Vacuoles - genetics

Human malignant infantile osteopetrosis (arOP; MIM 259700) is a genetically heterogeneous autosomal recessive disorder of bone metabolism, which, if untreated, has a fatal outcome. Our group, as well as others, have recently identified mutations in the ATP6i (TCIRG1) gene, encoding the a3 subunit of...