Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome.

Cellular and molecular biology (Noisy-le-Grand, France)

Volumn 47 Online Pub, Issue , 2001, Pages

  Seidel, J ^a   Moller L B ^a   Mentzel, H J ^a   Kauf, E ^a   Vogt, S ^a   Patzer, S ^a   Wollina, U ^a   Zintl, F ^a   Horn, N ^a  

^a FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ATP7A PROTEIN, HUMAN; CARRIER PROTEIN; CATION TRANSPORT PROTEIN; COPPER; HYBRID PROTEIN;

ADULT; ARTICLE; CASE REPORT; EHLERS DANLOS SYNDROME; EXON; GENETICS; GENOTYPE; HAIR; HUMAN; INTRON; MALE; MENKES SYNDROME; METABOLISM; MUTATION; PATHOLOGY; PHENOTYPE; PRESCHOOL CHILD; RNA SPLICING; SKULL; STOP CODON;

ADENOSINE TRIPHOSPHATASES; ADULT; CARRIER PROTEINS; CATION TRANSPORT PROTEINS; CHILD, PRESCHOOL; CODON, TERMINATOR; COPPER; EHLERS-DANLOS SYNDROME; EXONS; GENOTYPE; HAIR; HUMANS; INTRONS; MALE; MENKES KINKY HAIR SYNDROME; MUTATION; PHENOTYPE; RECOMBINANT FUSION PROTEINS; RNA SPLICING; SKULL;

EID: 0012441002     PISSN: 01455680     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (0)