Analysis of TRPM6 gene variant in a pedigree affected with hypocalcemia secondary to hypomagnesemia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 805-808, 2019.
Artículo
en Chino
| WPRIM
| ID: wpr-776801
ABSTRACT
OBJECTIVE@#To explore the molecular pathogenesis for a pedigree affected with hypocalcemia secondary to hypomagnesemia.@*METHODS@#Sanger sequencing was used to detect potential variant of the TRPM6 gene in the patient and their parents.@*RESULTS@#The results showed that the patient has carried novel homozygous c.3311C>T (p.Pro1104Leu) variant of the TRMP6 gene, for which both of his parents were heterozygous carriers. Analysis of protein functions using software predicted high risk of pathogenicity.@*CONCLUSION@#The homozygous c.3311C>T (p.Pro1104Leu) variant of the TRPM6 gene probably underlies the disease in this patient.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Canales Catiónicos TRPM
/
Genética
/
Heterocigoto
/
Hipocalcemia
/
Magnesio
/
Deficiencia de Magnesio
Tipo de estudio:
Estudio pronóstico
Límite:
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Artículo
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