X-linked recessive Menkes disease: Carrier detection in the case of a partial gene deletion

Clinical Genetics

Volumn 62, Issue 6, 2002, Pages 440-448

  Poulsen, L ^a   Horn, N ^a   Møller, Lisbeth Birk ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

Author keywords

Carrier detection; Deletion; Menkes disease; Polymorphism; RT PCR; Spanning

Indexed keywords

ADENOSINE TRIPHOSPHATASE; BIOLOGICAL MARKER; COPPER; GENOMIC DNA;

ALLELE; ARTICLE; CONTROLLED STUDY; COPPER METABOLISM; DISEASE CARRIER; DNA POLYMORPHISM; GENE DELETION; GENE MUTATION; GENE SEGREGATION; GENETIC DISORDER; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; INTRON; MALE; MENKES SYNDROME; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; RELIABILITY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RISK ASSESSMENT; SOUTHERN BLOTTING; X CHROMOSOME RECESSIVE DISORDER;

EXONS; FAMILY HEALTH; FEMALE; GENE DELETION; HETEROZYGOTE DETECTION; HUMANS; INTRONS; LOSS OF HETEROZYGOSITY; MENKES KINKY HAIR SYNDROME; MENTAL RETARDATION, X-LINKED; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 0036948854     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.620604.x     Document Type: Article

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