Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning
نویسندگان
چکیده
منابع مشابه
Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning.
Dominant human genetic diseases that impair reproductive fitness and have high locus heterogeneity constitute a problem for gene discovery because the usual criterion of finding more mutations in specific genes than expected by chance may require extremely large populations. Heterotaxy (Htx), a congenital heart disease resulting from abnormalities in left-right (LR) body patterning, has feature...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 2011
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.1019645108