Familial pycnodysostosis: Identification of a novel mutation in the CTSK gene (cathepsin K)

Journal of Investigative Medicine

Volumn 59, Issue 2, 2011, Pages 277-280

  Toral López, Jaime ^a   Gonzalez Huerta, Luz Maria ^b   Sosa, Blanca ^a   Orozco, Sócrates ^a   González, Hugo Peláez ^c   Cuevas Covarrubias, Sergio A ^b,c  

^a Secretaria de Finanzas del Distrito Federal   (Mexico)

^b UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

^c HOSPITAL GENERAL DE MÉXICO   (Mexico)

Author keywords

Acro osteolysis; Cathepsin K; CTSK gene; Pycnodysostosis

Indexed keywords

CATHEPSIN K; GENOMIC DNA; GLUTAMIC ACID; GLYCINE;

ADOLESCENT; ARTICLE; BONE DENSITY; CASE REPORT; CHILD; CONTROLLED STUDY; CTSK GENE; DNA SEQUENCE; DUAL ENERGY X RAY ABSORPTIOMETRY; FAMILIAL DISEASE; FEMALE; GENE; GENE MUTATION; GENOTYPE; HUMAN; MALE; PHENOTYPE; PYCNODYSOSTOSIS; SCHOOL CHILD; AMINO ACID SUBSTITUTION; CLINICAL FEATURE; EXON; GENE IDENTIFICATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; LUMBAR SPINE; MEXICAN; MISSENSE MUTATION; POINT MUTATION;

EID: 85008249098     PISSN: 17088267     EISSN: None     Source Type: Journal    
DOI: 10.2310/JIM.0b013e318202a9db     Document Type: Article

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