Clinical utility gene card for Menkes disease

Zeynep Tümer; Leo Klomp

doi:10.1038/ejhg.2011.56

Clinical utility gene card for Menkes disease

Afdeling for Genetik DIA

2 Citationer (Scopus)

Originalsprog	Engelsk
Tidsskrift	European journal of human genetics : EJHG
Vol/bind	19
Udgave nummer	10
ISSN	1018-4813
DOI	https://doi.org/10.1038/ejhg.2011.56
Status	Udgivet - okt. 2011

Adgang til dokumentet

10.1038/ejhg.2011.56

Citationsformater

@article{b4be3f2004874b459a6b8cf81190a554,

title = "Clinical utility gene card for Menkes disease",

keywords = "Adenosine Triphosphatases, Cation Transport Proteins, Copper, Female, Genetic Diseases, X-Linked, Genetic Testing, Heterozygote Detection, Humans, Infant, Male, Menkes Kinky Hair Syndrome, Mutation, Sensitivity and Specificity",

author = "Zeynep T{\"u}mer and Leo Klomp",

year = "2011",

month = oct,

doi = "10.1038/ejhg.2011.56",

language = "English",

volume = "19",

journal = "European journal of human genetics : EJHG",

issn = "1018-4813",

publisher = "Springer Nature",

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T1 - Clinical utility gene card for Menkes disease

AU - Tümer, Zeynep

AU - Klomp, Leo

PY - 2011/10

Y1 - 2011/10

KW - Adenosine Triphosphatases

KW - Cation Transport Proteins

KW - Copper

KW - Female

KW - Genetic Diseases, X-Linked

KW - Genetic Testing

KW - Heterozygote Detection

KW - Humans

KW - Infant

KW - Male

KW - Menkes Kinky Hair Syndrome

KW - Mutation

KW - Sensitivity and Specificity

U2 - 10.1038/ejhg.2011.56

DO - 10.1038/ejhg.2011.56

M3 - Journal article

C2 - 21487442

SN - 1018-4813

VL - 19

JO - European journal of human genetics : EJHG

JF - European journal of human genetics : EJHG

IS - 10

ER -