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BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile.
Oncotarget. 2017 Jun 29;8(43):74233-74243. doi: 10.18632/oncotarget.18815. eCollection 2017 Sep 26.
Oncotarget. 2017.
PMID: 29088781
Free PMC article.
Two different 5' splice site mutations in the growth hormone gene causing autosomal dominant growth hormone deficiency.
Missarelli C, Herrera L, Mericq V, Carvallo P.
Missarelli C, et al.
Hum Genet. 1997 Nov;101(1):113-7. doi: 10.1007/s004390050597.
Hum Genet. 1997.
PMID: 9385381
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Isolated growth hormone deficiency in Chilean patients: clinical and molecular analysis.
Molina G, Rodriguez A, Derpich M, Missarelli C, Cassorla F, Mericq V, Carvallo P.
Molina G, et al. Among authors: missarelli c.
J Pediatr Endocrinol Metab. 2003 Oct-Nov;16(8):1143-55. doi: 10.1515/jpem.2003.16.8.1143.
J Pediatr Endocrinol Metab. 2003.
PMID: 14594175
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