Cathepsin K gene mutations and 1q21 haplotypes in patients with pycnodysostosis in an outbred population

European Journal of Human Genetics

Volumn 8, Issue 6, 2000, Pages 431-436

  Haagerup, Annette ^a   Hertz, Jens M ^b   Christensen, Mogens F ^b   Binderup, Helle ^b   Kruse, Torben A ^b  

^a AARHUS UNIVERSITY   (Denmark)

^b NONE

Author keywords

Cathepsin K (CTSK) gene; Founder effect; Haplotype; Mutation; Pycnodysostosis

Indexed keywords

CATHEPSIN K; LEUCINE; MICROSATELLITE DNA; PROLINE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; ASSAY; AUTOSOMAL RECESSIVE INHERITANCE; CAUCASIAN; CHILD; CHROMOSOME 1Q; CLINICAL ARTICLE; CONTROLLED STUDY; DELETION MUTANT; DNA SEQUENCE; DYSOSTOSIS; EXON; FEMALE; GENE MUTATION; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATION RATE; POPULATION GENETICS; PRIORITY JOURNAL; PYKNODYSOSTOSIS;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; CATHEPSINS; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 1; DNA MUTATIONAL ANALYSIS; DYSOSTOSES; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; HAPLOTYPES; HUMANS; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PREGNANCY; RNA SPLICING; SEQUENCE DELETION;

EID: 0034048164     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200481     Document Type: Article

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