Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis

European Journal of Medical Genetics

Volumn 50, Issue 3, 2007, Pages 188-199

  Souraty, Noëlle ^a   Noun, Peter ^b   Djambas Khayat, Claudia ^c   Chouery, Eliane ^a   Pangrazio, Alessandra ^d   Villa, Anna ^d   Lefranc, Gérard ^e   Frattini, Annalisa ^d   Mégarbané, André ^a  

^a Laboratoire de Physiologie   (Lebanon)

^b Jeitawi Hospital   (Lebanon)

^c SAINT JOSEPH UNIVERSITY   (Lebanon)

^d INSTITUTE OF BIOMEDICAL TECHNOLOGIES   (Italy)

^e INSTITUTE OF HUMAN GENETICS   (France)

Author keywords

Neurological defects; Osteopetrosis; OSTM1; TCIRG1

Indexed keywords

ACID PHOSPHATASE; LIVER ENZYME;

ALBERS SCHOENBERG DISEASE; ANEMIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN MALFORMATION; BRAIN SCINTISCANNING; CHLORIDE CHANNEL 7 GENE; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINITY; CONTROLLED STUDY; ENZYME BLOOD LEVEL; EXOPHTHALMOS; FAILURE TO THRIVE; FAMILY ASSESSMENT; FEMALE; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEPATOSPLENOMEGALY; HUMAN; HYPOCALCEMIA; INFANT; LABORATORY TEST; MACROCEPHALY; MALE; MEDICAL EXAMINATION; MIDDLE EAST; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; OPTIC NERVE ATROPHY; OSTEOCLAST; OSTEOPETROSIS ASSOCIATED TRANSMEMBRANE PROTEIN 1 GENE; PEDIGREE ANALYSIS; PRESCHOOL CHILD; RNA ANALYSIS; STRABISMUS; T CELL IMMUNOREGULATOR 1 GENE; THROMBOCYTOPENIA;

BASE SEQUENCE; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EXONS; FEMALE; GENES, RECESSIVE; GENOTYPE; HUMANS; INFANT; LEBANON; MALE; MEMBRANE PROTEINS; MUTATION; OSTEOPETROSIS; PEDIGREE; PHENOTYPE; RNA SPLICING; SYRIA; UBIQUITIN-PROTEIN LIGASES; VACUOLAR PROTON-TRANSLOCATING ATPASES;

EID: 34248551490     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2007.01.005     Document Type: Article

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