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Publication | Open Access

GH-Releasing Hormone Receptor Gene: A Novel Splice-Disrupting Mutation and Study of Founder Effects

DOIFull Paper Access

23

Citations

26

References

2012

Year

Suemi Marui, Ericka Barbosa Trarbach, Margaret Cristina da Silva Boguszewski, Marcela M. França, Alexander A.L. Jorge, Hiroshi Inoue, Mirian Yumie Nishi, Luiz de Lacerda Filho, Manuel H. Aguiar‐Oliveira, Berenice B. Mendonça,
Hormone Research in Paediatrics

Abstract

We report a novel splice-disrupting mutation in GHRHR in 2 siblings and provide evidence that all c.57+1G>A (IVS1+1G>A) mutant chromosomes have the same haplotype ancestor, indicating the occurrence of a founder effect in Brazilian patients with IGHD.

References

YearCitations

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