Molecular diagnosis of Menkes disease: Genotype-phenotype correlation

Biochimie

Volumn 91, Issue 10, 2009, Pages 1273-1277

  Møller, Lisbeth Birk ^a   Mogensen, Mie ^a   Horn, Nina ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

Author keywords

Genotype phenotype correlation; Menkes disease; Occipital horn syndrome

Indexed keywords

ADENOSINE TRIPHOSPHATASE; AMINO ACID; COPPER; MENKES PROTEIN;

AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; CARBOXY TERMINAL SEQUENCE; CHILDHOOD MORTALITY; CONNECTIVE TISSUE DISEASE; COPPER METABOLISM; DEGENERATIVE DISEASE; DIAGNOSTIC TEST; DISEASE COURSE; DISEASE SEVERITY; GENE DELETION; GENE FUNCTION; GENE IDENTIFICATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEMOSTASIS; HUMAN; MENKES SYNDROME; MISSENSE MUTATION; MOLECULAR BIOLOGY; MUTATIONAL ANALYSIS; NONHUMAN; NONSENSE MUTATION; PROMOTER REGION; PROTEIN DEFECT; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN MOTIF; PROTEIN VARIANT; SHORT SURVEY; SYMPTOM; X CHROMOSOME LINKED DISORDER;

ADENOSINE TRIPHOSPHATASES; ANIMALS; GENOTYPE; HUMANS; MENKES KINKY HAIR SYNDROME; MUTATION; PHENOTYPE;

EID: 69749106065     PISSN: 03009084     EISSN: 61831638     Source Type: Journal    
DOI: 10.1016/j.biochi.2009.05.011     Document Type: Short Survey

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