Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis

Z Tümer; T Tønnesen; N Horn

doi:10.1007/BF00711804

Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis

Z Tümer, T Tønnesen, N Horn

16 Citationer (Scopus)

Originalsprog	Engelsk
Tidsskrift	Journal of Inherited Metabolic Disease
Vol/bind	17
Udgave nummer	3
Sider (fra-til)	267-70
Antal sider	4
ISSN	0141-8955
DOI	https://doi.org/10.1007/BF00711804
Status	Udgivet - 1994
Udgivet eksternt	Ja

Adgang til dokumentet

10.1007/BF00711804

Citationsformater

@article{f5ca5998b01945609db00b3c00339b48,

title = "Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis",

keywords = "Blotting, Southern, Copper Radioisotopes, DNA/analysis, Fibroblasts/metabolism, Genetic Carrier Screening, Humans, Menkes Kinky Hair Syndrome/diagnosis, Mutation, X Chromosome/ultrastructure",

author = "Z T{\"u}mer and T T{\o}nnesen and N Horn",

year = "1994",

doi = "10.1007/BF00711804",

language = "English",

volume = "17",

pages = "267--70",

journal = "Journal of Inherited Metabolic Disease",

issn = "0141-8955",

publisher = "Springer Netherlands",

number = "3",

}

TY - JOUR

T1 - Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis

AU - Tümer, Z

AU - Tønnesen, T

AU - Horn, N

PY - 1994

Y1 - 1994

KW - Blotting, Southern

KW - Copper Radioisotopes

KW - DNA/analysis

KW - Fibroblasts/metabolism

KW - Genetic Carrier Screening

KW - Humans

KW - Menkes Kinky Hair Syndrome/diagnosis

KW - Mutation

KW - X Chromosome/ultrastructure

U2 - 10.1007/BF00711804

DO - 10.1007/BF00711804

M3 - Journal article

C2 - 7807930

SN - 0141-8955

VL - 17

SP - 267

EP - 270

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 3

ER -