Variant: rs367775730 

    present in Gene: PGK1;ATP7A
    present in Chromosome: X
    Position on Chromosome: 78015786
    Alleles of this Variant: G/A

rs367775730 in PGK1;ATP7A gene and Menkes Kinky Hair Syndrome PMID 15981243 2005 Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A.

PMID 10319589 1999 Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease.

PMID 22992316 2012 The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation.

PMID 11241493 2001 ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome.

PMID 21667063 2012 The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression.

PMID 21487442 2011 Clinical utility gene card for: Menkes disease.

PMID 7977350 1994 Diverse mutations in patients with Menkes disease often lead to exon skipping.

PMID 10079817 1999 Mutation spectrum of ATP7A, the gene defective in Menkes disease.

PMID 10401004 1999 Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease.

PMID 11350187 2001 Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis.

PMID 8981948 1997 Identification of point mutations in 41 unrelated patients affected with Menkes disease.