title: [Rare variants of alpha 1-antitrypsin in families having neonates with deformities].
abstract: Alpha 1-antitrypsin rare variants' distribution in a group of 196 families with developmental malformations of newborns was investigated. Significantly increased frequencies of rare variants were noted in groups of probands and their mothers, as compared to the control groups. Preferential transmission of rare alleles from mothers to probands is demonstrated.
mesh_terms: D000483:Alleles; D000013:Congenital Abnormalities / Q000097:blood / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000235:genetics*
chemical_list: D000515:alpha 1-Antitrypsin
vernacular_title: Redkie varianty alpha 1-antitripsina v gruppe semeĭ s narusheniem razvitiia u novorozhdennykh.