Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis

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Standard

Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis. / László, Aranka; Endreffy, Emoke; Tümer, Zeynep; Horn, Nina; Szabó, János.

I: Ideggyógyászati szemle, Bind 63, Nr. 1-2, 2010, s. 48-51.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

László, A, Endreffy, E, Tümer, Z, Horn, N & Szabó, J 2010, 'Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis', Ideggyógyászati szemle, bind 63, nr. 1-2, s. 48-51.

APA

László, A., Endreffy, E., Tümer, Z., Horn, N., & Szabó, J. (2010). Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis. Ideggyógyászati szemle, 63(1-2), 48-51.

Vancouver

László A, Endreffy E, Tümer Z, Horn N, Szabó J. Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis. Ideggyógyászati szemle. 2010;63(1-2):48-51.

Author

László, Aranka ; Endreffy, Emoke ; Tümer, Zeynep ; Horn, Nina ; Szabó, János. / Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis. I: Ideggyógyászati szemle. 2010 ; Bind 63, Nr. 1-2. s. 48-51.

Bibtex

@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 = "Ideggyogyaszati Szemle",
issn = "0019-1442",
publisher = "Literatura Medica Kiado",
number = "1-2",

}

RIS

TY - JOUR

T1 - Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis

AU - László, Aranka

AU - Endreffy, Emoke

AU - Tümer, Zeynep

AU - Horn, Nina

AU - Szabó, János

N1 - 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

PY - 2010

Y1 - 2010

N2 - 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.

AB - 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.

M3 - Journal article

C2 - 20420124

VL - 63

SP - 48

EP - 51

JO - Ideggyogyaszati Szemle

JF - Ideggyogyaszati Szemle

SN - 0019-1442

IS - 1-2

ER -

ID: 20990960