An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy

Genetics in Medicine

Volumn 16, Issue 2, 2014, Pages 149-156

  Luo, Minjie ^a   Liu, Liu ^b   Peter, Inga ^a   Zhu, Jun ^a   Scott, Stuart A ^a   Zhao, Geping ^a   Eversley, Chevonne ^c   Kornreich, Ruth ^a   Desnick, Robert J ^a   Edelmann, Lisa ^a  

^a NEW YORK UNIVERSITY   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c Northwestern Reproductive Genetics   (United States)

Author keywords

Ashkenazi Jewish; population screening; spinal muscular atrophy

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2;

ALLELE; ARTICLE; CHROMOSOME DELETION; COPY NUMBER VARIATION; ETHNICITY; EXON; GENE DUPLICATION; GENE FREQUENCY; GENE MUTATION; HAPLOTYPE; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMAN; JEW; MAJOR CLINICAL STUDY; SPINAL MUSCULAR ATROPHY;

GENE DUPLICATION; GENETIC TESTING; GENETIC VARIATION; HAPLOTYPES; HUMANS; JEWS; MICROSATELLITE REPEATS; MUSCULAR ATROPHY, SPINAL; SEQUENCE ANALYSIS, DNA; SURVIVAL OF MOTOR NEURON 1 PROTEIN;

EID: 84898459703     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2013.84     Document Type: Article

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