Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: Report of 20 novel mutations

Human Mutation

Volumn 31, Issue 1, 2010, Pages

  Pangrazio, Alessandra ^a,b   Pusch, Michael ^a   Caldana, Elena ^a,b   Frattini, Annalisa ^a   Lanino, Edoardo ^c   Tamhankar, Parag M ^d   Phadke, Shubha ^d   Lopez, Antonio Gonzalez Meneses ^e   Orchard, Paul ^f   Mihci, Ercan ^g   Abinun, Mario ^h   Wright, Michael ⁱ   Vettenranta, Kim ^j   Bariæ, Ivo ^k   Melis, Daniela ^l   Tezcan, Ilhan ^m   Baumann, Clarisse ⁿ   Locatelli, Franco ^o   Zecca, Marco ^o   Horwitz, Edwin ^p   Mansour, Lamia Sfaihi Ben ^q   Van Roij, Mirjam ^r   Vezzoni, Paolo ^a,b   Villa, Anna ^a,b   Sobacchi, Cristina ^a,b   more..

^a CNR   (Italy)

^b HUMANITAS CLINICAL AND RESEARCH CENTER   (Italy)

^c G GASLINI INSTITUTE   (Italy)

^d SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

^e HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^f UNIVERSITY OF MINNESOTA   (United States)

^g AKDENIZ UNIVERSITY   (Turkey)

^h NEWCASTLE UNIVERSITY   (United Kingdom)

ⁱ NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^j TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^k KBC Zagreb   (Croatia)

^l UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^m HACETTEPE UNIVERSITY   (Turkey)

ⁿ HÔPITAL ROBERT DEBRÉ   (France)

^o UNIVERSITY OF PAVIA   (Italy)

^p CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^q HEDI CHAKER HOSPITAL   (Tunisia)

^r VU UNIVERSITY MEDICAL CENTER   (Netherlands)

more..

Author keywords

Chloride; CNS defects; Osteopetrosis; Transplantation

Indexed keywords

AMINO ACID; DNA;

ALBERS SCHOENBERG DISEASE; AMINO ACID SUBSTITUTION; ANEMIA; ARTICLE; BLOOD SAMPLING; BRAIN ATROPHY; CENTRAL NERVOUS SYSTEM; CLCN7 GENE; CLINICAL ARTICLE; CLINICAL EXAMINATION; FRACTURE; GENE; GENE DELETION; GENE EXPRESSION; GENE IDENTIFICATION; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOGENESIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SPASTICITY; SPLICING DEFECT;

ADULT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; CHLORIDE CHANNELS; CRYSTALLIZATION; FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MODELS, MOLECULAR; MUTATION; OSTEOPETROSIS; PHENOTYPE; SEVERITY OF ILLNESS INDEX;

EID: 74049126057     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.21167     Document Type: Article

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