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Pycnodysostosis; Cathepsin K; Inbreeding; Novel mutation
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European Journal of Medical Research, doi:10.1186/s40001-016-0228-7
Pycnodysostosis; Cathepsin K; Inbreeding; Novel mutation
Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region
Thaís Fenz Araujo
Erlane Marques Ribeiro
Anderson Pontes Arruda
Carolina Araujo Moreno
Paula Frassinetti Vasconcelos Medeiros
Renata Moldenhauer Minillo
Débora Gusmão Melo
Chong Ae Kim
Maria Juliana Rodovalho Doriqui
Têmis Maria Felix
Rodrigo Ambrosio Fock
Denise Pontes Cavalcanti
10.1186/s40001-016-0228-7
2010-04-23
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