Evidence of a segregation ratio distortion of SMN1 alleles in spinal muscular atrophy

European Journal of Human Genetics

Volumn 15, Issue 10, 2007, Pages 1090-1093

  Alias, Laura ^a   Barceló, Maria J ^a,b   Gich, Ignasi ^a   Estapé, Marta ^a,b   Parra, Juan ^a   Amenedo, Maria ^a   Baiget, Montserrat ^a,b   Tizzano, Eduardo F ^a,b  

^a HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^b Centre for Biomedical Network Research on Rare Diseases   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN; SURVIVAL MOTOR NEURON PROTEIN 1; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CELL SURVIVAL; CONTROLLED STUDY; DISEASE TRANSMISSION; FEMALE; FERTILIZATION; GENE LOCUS; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MEIOSIS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SEGREGATION DISTORTION; SEX RATIO; SPINAL MUSCULAR ATROPHY; SPONTANEOUS ABORTION; STATISTICAL SIGNIFICANCE; WILD TYPE;

ALLELES; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; FEMALE; GENE FREQUENCY; GENES, RECESSIVE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; PREGNANCY; PRENATAL DIAGNOSIS; RNA-BINDING PROTEINS;

EID: 34848904533     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201886     Document Type: Article

References (13)

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