The mutational spectrum of human malignant autosomal recessive osteopetrosis

Human Molecular Genetics

Volumn 10, Issue 17, 2001, Pages 1767-1773

  Sobacchi, Cristina ^a   Frattini, Annalisa ^a   Orchard, Paul ^b   Porras, Oscar ^c   Tezcan, Ilhan ^d   Andolina, Marino ^e   Babul Hirji, Riyana ^f   Baric, Ivo ^g   Canham, Natalie ^h   Chitayat, David ⁱ   Dupuis Girod, Sophie ^j   Ellis, Ian ^k   Etzioni, Amos ^l   Fasth, Anders ^m   Fisher, Alain ^j   Gerritsen, Bert ⁿ   Gulino, Virginia ^o   Horwitz, Edwin ^p   Klamroth, Verena ^q   Lanino, Edoardo ^r   Mirolo, Massimiliano ^a   Musio, Antonio ^a   Matthijs, Gert ^s   Nonomaya, Shigeaki ^t   Notarangelo, Luigi D ^o   Ochs, Hans D ^u   Furga, Andrea Superti ^v   Valiaho, Jouni ^w,x   Van Hove, Johan L K ^y   Vihinen, Mauno ^w,x   Vujic, Dragana ^z   Vezzoni, Paolo ^a   Villa, Anna ^a   more..

^a CNR   (Italy)

^b UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^c National Children Hospital   (Costa Rica)

^d HACETTEPE UNIVERSITY   (Turkey)

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

^f HOSPITAL FOR SICK CHILDREN   (Canada)

^g KBC Zagreb   (Croatia)

^h BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

ⁱ UNIVERSITY OF TORONTO   (Canada)

^j HÔPITAL NECKER ENFANTS MALADES   (France)

^k ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^l RAMBAM MEDICAL CENTER   (Israel)

^m QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

ⁿ Medisch Centrum Rijnmond Zuid   (Netherlands)

^o UNIVERSITY OF BRESCIA   (Italy)

^p ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^q UNIVERSITY OF MÜNSTER   (Germany)

^r G GASLINI INSTITUTE   (Italy)

^s UNIVERSITY OF LEUVEN   (Belgium)

^t TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^u UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^v UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^w TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^x TAMPERE UNIVERSITY HOSPITAL   (Finland)

^y UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^z Mother and Child Health Institute Belgrade rs   (Serbia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; AMINO ACID; PROTEIN SUBUNIT; PROTON PUMP;

ACIDIFICATION; ALBERS SCHOENBERG DISEASE; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BABY; BIRTH; BONE DISEASE; BONE METABOLISM; CELL VACUOLE; CLINICAL ARTICLE; CONTROLLED STUDY; COSTA RICA; DISEASE COURSE; DISEASE SEVERITY; EVOLUTION; FATALITY; FEMALE; FETUS; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC CONSERVATION; GENETIC DISORDER; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; NONSENSE MUTATION; OSTEOCLAST; PREDICTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; YEAST;

EID: 0035880417     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.17.1767     Document Type: Article

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