Evaluation of the SMN and NAIP genes in a family: homozygous deletion of the SMN2 gene in the fetus and outcome of the pregnancy.
Cogulu
Ozgur
O
Department of Medical Genetics, Faculty of Medicine, Ege University, Bornova, Izmir, Turkey.
Durmaz
Burak
B
Pehlivan
Sacide
S
Alpman
Asude
A
Ozkinay
Ferda
F
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
C496800:NAIP protein, human; D051616:Neuronal Apoptosis-Inhibitory Protein; C526477:SMN2 protein, human; D055540:Survival of Motor Neuron 2 Protein