Cathepsin K analysis in a pycnodysostosis cohort: Demographic, genotypic and phenotypic features

Orphanet Journal of Rare Diseases

Volumn 9, Issue 1, 2014, Pages

  Arman, Ahmet ^a   Bereket, Abdullah ^a   Coker, Ajda ^d   Kiper, Pelin Özlem Şimşek ^b   Güran, Tülay ^a   Özkan, Behzat ^c   Atay, Zeynep ^a   Akçay, Teoman ^a   Haliloglu, Belma ^a   Boduroglu, Koray ^b   Alanay, Yasemin ^b,e   Turan, Serap ^a  

^a MARMARA UNIVERSITY   (Turkey)

^b HACETTEPE UNIVERSITY   (Turkey)

^c Medeniyet University   (Turkey)

^d ISTANBUL KULTUR UNIVERSITY   (Turkey)

^e ACIBADEM UNIVERSITY   (Turkey)

Author keywords

Arnold Chiari malformation; Cathepsin K; Craniosynostosis; Fracture; Pycnodysostosis

Indexed keywords

CATHEPSIN K;

ADOLESCENT; ADULT; AGE; ALU SEQUENCE; ARTICLE; CHILD; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DISEASE ASSOCIATION; EXON; FEMALE; FRACTURE; GENE AMPLIFICATION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; INTRON; MALE; MISSENSE MUTATION; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PYCNODYSOSTOSIS; SCHOOL CHILD; YOUNG ADULT;

CATHEPSIN K; COHORT STUDIES; EXONS; FEMALE; GENOTYPE; HUMANS; INTRONS; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PYCNODYSOSTOSIS;

EID: 84900329583     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-9-60     Document Type: Article

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