Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: The unique splice site mutation in TCIRG1 gene spread by the founder effect

European Journal of Human Genetics

Volumn 17, Issue 5, 2009, Pages 664-672

  Bliznetz, Elena A ^a   Tverskaya, Svetlana M ^a   Zinchenko, Rena A ^a   Abrukova, Anna V ^b   Savaskina, Ekaterina N ^b   Nikulin, Maxim V ^a   Kirillov, Alexander G ^b   Ginter, Evgeny K ^a   Polyakov, Alexander V ^a  

^a RESEARCH CENTRE FOR MEDICAL GENETICS   (Russian Federation)

^b N N BLOKHIN NATIONAL MEDICAL RESEARCH CENTER OF ONCOLOGY   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; OSTEOCLAST DIFFERENTIATION FACTOR; PROTEIN TCIRG1; UNCLASSIFIED DRUG;

ALBERS SCHOENBERG DISEASE; APLASTIC ANEMIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; ERYTHROCYTE CONCENTRATE; FEMALE; FOUNDER EFFECT; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; HAPLOTYPE; HEPATOSPLENOMEGALY; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRON; MAJOR CLINICAL STUDY; MELTING POINT; MORBIDITY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RNA TRANSCRIPTION; STOP CODON; THROMBOCYTOPENIA; USSR;

BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; DNA MUTATIONAL ANALYSIS; FEMALE; FOUNDER EFFECT; GENE FREQUENCY; GENES, RECESSIVE; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOPETROSIS; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA SPLICE SITES; RUSSIA; VACUOLAR PROTON-TRANSLOCATING ATPASES;

EID: 67349167385     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.234     Document Type: Article

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