@article{3f098380963711df928f000ea68e967b,
title = "Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis",
abstract = "Menkes disease (MD) is an X-linked recessive multisystemic lethal, heredodegenerative disorder. Progressive neurodegeneration and connective tissue disturbances with microscopically kinky hair are the main symptoms. Molecular genetic mutation analysis was made at a Hungarian male infant suffering from MD and prenatal diagnosis was done in this MD loaded family. METHOD: The 12th exon of ATP7A gene has been analyzed by dideoxy-finger printing (DDF), polymerase chain reaction (PCR), direct sequencing of exon 12. The specific mutation was screened from chorionic villi of the maternal aunt at the 14th gestational week. RESULTS: In the exon 12th a basic pair substitution with Arg 844 His change was detected leading to very severe fatal missense mutation.",
author = "Aranka L{\'a}szl{\'o} and Emoke Endreffy and Zeynep T{\"u}mer and Nina Horn and J{\'a}nos Szab{\'o}",
note = "Keywords: Adenosine Triphosphatases; Arginine; Cation Transport Proteins; Chorionic Villi Sampling; DNA Mutational Analysis; Exons; Fatal Outcome; Female; Heterozygote; Histidine; Humans; Infant; Male; Menkes Kinky Hair Syndrome; Mutation, Missense; Polymerase Chain Reaction; Prenatal Diagnosis; Young Adult",
year = "2010",
language = "English",
volume = "63",
pages = "48--51",
journal = "Ideggy{\'o}gy{\'a}szati szemle",
issn = "0019-1442",
publisher = "Literatura Medica Kiado",
number = "1-2",
}