title: Evaluation of the SMN and NAIP genes in a family: homozygous deletion of the SMN2 gene in the fetus and outcome of the pregnancy.
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Ege University, Bornova, Izmir, Turkey.
authors.forename: Ozgur
authors.initials: O
authors.lastname: Cogulu
authors.forename: Burak
authors.initials: B
authors.lastname: Durmaz
authors.forename: Sacide
authors.initials: S
authors.lastname: Pehlivan
authors.forename: Asude
authors.initials: A
authors.lastname: Alpman
authors.forename: Ferda
authors.initials: F
authors.lastname: Ozkinay
mesh_terms: D003241:Consanguinity; D005190:Family; D005260:Female; D017353:Gene Deletion; D006720:Homozygote; D006801:Humans; D051616:Neuronal Apoptosis-Inhibitory Protein / Q000235:genetics*; D011247:Pregnancy; D011256:Pregnancy Outcome / Q000235:genetics*; D055540:Survival of Motor Neuron 2 Protein / Q000235:genetics
chemical_list: C496800:NAIP protein, human; D051616:Neuronal Apoptosis-Inhibitory Protein; C526477:SMN2 protein, human; D055540:Survival of Motor Neuron 2 Protein