High 64Cu uptake and retention values in two clinically atypical Menkes patients.

doi:10.1136/jmg.28.9.615

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Article

High 64Cu uptake and retention values in two clinically atypical Menkes patients.

Journal of medical genetics - 1 Sept 1991

Tønnesen T, Garrett C, Gerdes A M

Abstract excerpt

We have investigated two previously published atypical Menkes patients with 64Cu uptake and retention studies. Both of these analyses gave significantly increased results in the range seen for classical Menkes patients. 64Cu uptake analyses on female relatives gave the same uptake pattern as seen...

Topics

Cells, Cultured
Ceruloplasmin
Copper
Copper Radioisotopes
Female
Fibroblasts
Genes, Recessive
Genetic Carrier Screening
Hair
Humans
Infant
Male
Menkes Kinky Hair Syndrome
Pedigree
Phenotype

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