Identification of point mutations in 41 unrelated patients affected with Menkes disease

American Journal of Human Genetics

Volumn 60, Issue 1, 1997, Pages 63-71

  Tümer, Zeynep ^a   Lund, Connie ^a   Tolshave, Jo ^a   Vural, Burçak ^b   Tønnesen, Tønne ^a   Horn, Nina ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

^b ISTANBUL UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ALTERNATIVE RNA SPLICING; ARTICLE; CHILD; CONTROLLED STUDY; EXON; GENE DELETION; GENE INSERTION; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; INFANT; LETHALITY; MAJOR CLINICAL STUDY; MALE; MENKES SYNDROME; MISSENSE MUTATION; NEWBORN; NONSENSE MUTATION; POINT MUTATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ADENOSINE TRIPHOSPHATASES; CARRIER PROTEINS; CATION TRANSPORT PROTEINS; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FRAMESHIFT MUTATION; HUMANS; INFANT; INTRONS; MALE; MENKES KINKY HAIR SYNDROME; MUTAGENESIS, INSERTIONAL; PHENOTYPE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECOMBINANT FUSION PROTEINS; RNA SPLICING; SEQUENCE DELETION;

EID: 0031025976     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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