Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/Occipital horn syndrome in three affected males in a single family

Journal of Pediatrics

Volumn 145, Issue 1, 2004, Pages 119-121

  Borm, Bettina ^a   Møller, Lisbeth Birk ^a   Hausser, Ingrid ^a   Emeis, Michael ^a   Baerlocher, Kurt ^a   Horn, Nina ^a   Rossi, Rainer ^a,b  

^a Department of Pediatrics   (Switzerland)

^b Klin F Kinder und Jugendmedizin   (Switzerland)

Author keywords

ATP7A; Copper; Copper transporting adenosine triphosphatase, deficient in Menkes disease 64Cu; Cu; MD; Menkes disease; Occipital horn syndrome; OHS; P domain; Phosphate binding domain

Indexed keywords

COPPER; HISTIDINE;

ADULT; ARTICLE; CASE REPORT; CONNECTIVE TISSUE DISEASE; COPPER METABOLISM; ELASTIC FIBER; GENE EXPRESSION; GENE MUTATION; HEMATOMA; HUMAN; MALE; MENKES SYNDROME; MENTAL DEFICIENCY; MISSENSE MUTATION; MORPHOLOGY; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN;

ADENOSINE TRIPHOSPHATASES; ADULT; CATION TRANSPORT PROTEINS; COPPER; DNA MUTATIONAL ANALYSIS; HUMANS; INFANT; MALE; MENKES KINKY HAIR SYNDROME; MUTATION, MISSENSE; RECOMBINANT FUSION PROTEINS;

EID: 3242717890     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2004.04.033     Document Type: Article

References (12)

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