scholarly journals Identification of a dysfunctional splicing mutation in the SLC22A12/URAT1 gene causing renal hypouricaemia type 1: a report on two families

Rheumatology ◽  
2020 ◽  
Vol 59 (12) ◽  
pp. 3988-3990
Author(s):  
Yusuke Kawamura ◽  
Yu Toyoda ◽  
Takuma Ohnishi ◽  
Ryutaro Hisatomi ◽  
Toshihide Higashino ◽  
...  
Keyword(s):  
Splicing Mutation ◽  
Renal Hypouricaemia

A novel splicing mutation (894-9 G→A) of the MEN1 gene responsible for multiple endocrine neoplasia type 1

1999 ◽  
Vol 142 (1) ◽  
pp. 105-110 ◽  
Author(s):  
Mari Kishi ◽  
Toshihiko Tsukada ◽  
Satoko Shimizu ◽  
Kazuyo Hosono ◽  
Takao Ohkubo ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Splicing Mutation ◽  
Men1 Gene ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

MEN1 935-1G>C Splicing Mutation in an Indian Patient with Multiple Endocrine Neoplasia Type 1

2007 ◽  
Vol 11 (2) ◽  
pp. 129-131 ◽  
Author(s):  
Rani Raghavan ◽  
Sudeep Shah ◽  
Altaf A. Kondkar ◽  
Alpa J. Dherai ◽  
Devendra Desai ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Splicing Mutation ◽  
Indian Patient ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

scholarly journals A Functional Alternative Splicing Mutation in AIRE Gene Causes Autoimmune Polyendocrine Syndrome Type 1

PLoS ONE ◽  
2013 ◽  
Vol 8 (1) ◽  
pp. e53981 ◽  
Author(s):  
Junyu Zhang ◽  
Hongbin Liu ◽  
Zhiyuan Liu ◽  
Yong Liao ◽  
Luo Guo ◽  
...  
Keyword(s):  
Alternative Splicing ◽  
Syndrome Type ◽  
Splicing Mutation ◽  
Aire Gene ◽  
Autoimmune Polyendocrine Syndrome

Prenatal diagnosis of sporadic neurofibromatosis type 1 (NF1) by RNA and DNA analysis of a splicing mutation

1999 ◽  
Vol 19 (8) ◽  
pp. 739-742 ◽  
Author(s):  
Elisabet Ars ◽  
Helena Kruyer ◽  
Antonia Gaona ◽  
Eduard Serra ◽  
Conxi Lázaro ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Neurofibromatosis Type 1 ◽  
Dna Analysis ◽  
Neurofibromatosis Type ◽  
Splicing Mutation ◽  
Rna And Dna

scholarly journals Hereditary renal hypouricaemia type 1 and 2 in three Spanish children. Review of published paediatric cases

2019 ◽  
Vol 39 (4) ◽  
pp. 355-361
Author(s):  
Amelia Peris Vidal ◽  
Juan Marin Serra ◽  
Elena Lucas Sáez ◽  
Susana Ferrando Monleón ◽  
Félix Claverie-Martin ◽  
...  
Keyword(s):  
Renal Hypouricaemia

scholarly journals Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1

1995 ◽  
Vol 6 (1) ◽  
pp. 66-73 ◽  
Author(s):  
Si Houn Hahn ◽  
Donna Krasnewich ◽  
Mark Brantly ◽  
Eli Anne Kvittingen ◽  
William A. Gahl
Keyword(s):  
Missense Mutation ◽  
Splicing Mutation ◽  
American Child ◽  
Tyrosinemia Type 1
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