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231225s2019 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2019.108256
|2 doi
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|a pubmed24n1003.xml
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|a (DE-627)NLM301032173
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|a (NLM)31494288
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|a (PII)S1521-6616(19)30241-4
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|a DE-627
|b ger
|c DE-627
|e rakwb
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|a eng
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| 100 |
1 |
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|a Tozawa, Yusuke
|e verfasserin
|4 aut
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| 245 |
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|a A deep intronic mutation of c.1166-285 T > G in SLC46A1 is shared by four unrelated Japanese patients with hereditary folate malabsorption (HFM)
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|c 2019
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|a Text
|b txt
|2 rdacontent
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|a ƒaComputermedien
|b c
|2 rdamedia
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|a ƒa Online-Ressource
|b cr
|2 rdacarrier
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|a Date Completed 19.05.2020
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|a Date Revised 07.12.2022
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Copyright © 2019 Elsevier Inc. All rights reserved.
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|a Hereditary folate malabsorption (HFM) is an autosomal recessive disease caused by mutations in SLC46A1 encoding the proton-coupled folate transporter (PCFT). HFM patients present with various clinical features including megaloblastic anemia, thrombocytopenia, combined immunodeficiency and neurodevelopmental disorders. In this study, we report the same deep intronic mutation of c.1166-285 T > G shared by four unrelated Japanese patients with HFM. This mutation was shown to generate a cryptic splice donor site for a 168-bp insertion of intron 3 sequences, leading to premature termination in the middle of this insertion. This mutation could be a founder mutation in the Japanese population, but also could be a hot-spot and could be present in undiagnosed HFM patients worldwide because of the difficulty to detect this mutation
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|a Case Reports
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|a Journal Article
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|a Research Support, Non-U.S. Gov't
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|a Deep intronic mutation
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|a Hereditary folate malabsorption (HFM)
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|a Megaloblastic anemia
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| 650 |
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|a Proton-coupled folate transporter (PCFT)
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| 650 |
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4 |
|a SLC46A1
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| 650 |
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7 |
|a Proton-Coupled Folate Transporter
|2 NLM
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| 650 |
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|a SLC46A1 protein, human
|2 NLM
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| 700 |
1 |
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|a Abdrabou, Shimaa Said Mohamed Ali
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Nogawa-Chida, Natsuko
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Nishiuchi, Ritsuo
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Ishida, Toshiaki
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Suzuki, Yuichi
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Sano, Hideki
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Kobayashi, Ryoji
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Kishimoto, Kenji
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Ohara, Osamu
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Imai, Kohsuke
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Naruto, Takuya
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Kobayashi, Kunihiko
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Ariga, Tadashi
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Yamada, Masafumi
|e verfasserin
|4 aut
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| 773 |
0 |
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|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 208(2019) vom: 01. Nov., Seite 108256
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnns
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| 773 |
1 |
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|g volume:208
|g year:2019
|g day:01
|g month:11
|g pages:108256
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| 856 |
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|u http://dx.doi.org/10.1016/j.clim.2019.108256
|3 Volltext
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|a AR
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| 952 |
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|d 208
|j 2019
|b 01
|c 11
|h 108256
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