PubTransformer

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PMID- 28224773
OWN - NLM
STAT- MEDLINE
DA  - 20170222
DCOM- 20170315
LR  - 20170315
IS  - 2234-3814 (Electronic)
IS  - 2234-3806 (Linking)
VI  - 37
IP  - 3
DP  - 2017 May
TI  - Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.
PG  - 261-266
LID - 10.3343/alm.2017.37.3.261 [doi]
AB  - BACKGROUND: Molecular techniques are fundamental for establishing an accurate
      diagnosis and therapeutic approach of glycogen storage diseases (GSDs). We aimed 
      to evaluate SLC37A4 mutation spectrum in Korean GSD Ib patients. METHODS: Nine
      Korean patients from eight unrelated families with GSD Ib were included. SLC37A4 
      mutations were detected in all patients with direct sequencing using a PCR method
      and/or whole-exome sequencing. A comprehensive review of previously reported
      SLC37A4 mutations was also conducted. RESULTS: Nine different pathogenic SLC37A4 
      mutations were identified in the nine patients with GSD Ib. Among them, four
      novel mutations were identified: c.148G>A (pGly50Arg), c.320G>A (p.Trp107*),
      c.412T>C (p.Trp138Arg), and c.818G>A (p.Gly273Asp). The most common mutation type
      was missense mutations (66.7%, 6/9), followed by nonsense mutations (22.2%, 2/9) 
      and small deletion mutations (11.1%, 1/9). The most common mutation identified in
      the Korean population was c.443C>T (p.Ala148Val), which comprised 39.9% (7/18) of
      all tested alleles. This mutation has not been reported in GSD Ib patients in
      other ethnic populations. CONCLUSIONS: This study expands knowledge of the
      SLC37A4 mutation spectrum in Korean patients with GSD Ib.
FAU - Choi, Rihwa
AU  - Choi R
AD  - Department of Laboratory Medicine and Genetics, Samsung Medical Center,
      Sungkyunkwan University School of Medicine, Seoul, Korea.
FAU - Park, Hyung Doo
AU  - Park HD
AD  - Department of Laboratory Medicine and Genetics, Samsung Medical Center,
      Sungkyunkwan University School of Medicine, Seoul, Korea. [email protected]
FAU - Ko, Jung Min
AU  - Ko JM
AD  - Department of Pediatrics, Seoul National University Children's Hospital, Seoul
      National University College of Medicine, Seoul, Korea.
FAU - Lee, Jeongho
AU  - Lee J
AD  - Department of Pediatrics, Soonchunhyang University Hospital, Seoul, Korea.
FAU - Lee, Dong Hwan
AU  - Lee DH
AD  - Department of Pediatrics, Soonchunhyang University Hospital, Seoul, Korea.
FAU - Hong, Suk Jin
AU  - Hong SJ
AD  - Department of Pediatrics, Catholic University of Daegu School of Medicine, Daegu,
      Korea.
FAU - Ki, Chang Seok
AU  - Ki CS
AD  - Department of Laboratory Medicine and Genetics, Samsung Medical Center,
      Sungkyunkwan University School of Medicine, Seoul, Korea.
FAU - Lee, Soo Youn
AU  - Lee SY
AD  - Department of Laboratory Medicine and Genetics, Samsung Medical Center,
      Sungkyunkwan University School of Medicine, Seoul, Korea.
FAU - Kim, Jong Won
AU  - Kim JW
AD  - Department of Laboratory Medicine and Genetics, Samsung Medical Center,
      Sungkyunkwan University School of Medicine, Seoul, Korea.
FAU - Song, Junghan
AU  - Song J
AD  - Department of Laboratory Medicine, Seoul National University College of Medicine,
      Seoul National University Bundang Hospital, Seongnam, Korea. [email protected]
FAU - Choe, Yon Ho
AU  - Choe YH
AD  - Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School 
      of Medicine, Seoul, Korea.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Korea (South)
TA  - Ann Lab Med
JT  - Annals of laboratory medicine
JID - 101571172
RN  - 0 (Antiporters)
RN  - 0 (Monosaccharide Transport Proteins)
RN  - 0 (SLC37A4 protein, human)
RN  - Glycogen Storage Disease IB
SB  - IM
MH  - Alleles
MH  - Antiporters/*genetics
MH  - Asian Continental Ancestry Group/*genetics
MH  - Child
MH  - Exons
MH  - Female
MH  - Genotype
MH  - Glycogen Storage Disease Type I/diagnosis/*genetics
MH  - Humans
MH  - Infant
MH  - Male
MH  - Monosaccharide Transport Proteins/*genetics
MH  - Mutation, Missense
MH  - Polymorphism, Genetic
MH  - Republic of Korea
MH  - Sequence Deletion
PMC - PMC5339099
OTO - NOTNLM
OT  - *GSD Ib
OT  - *Glycogen storage disease
OT  - *Korean population
OT  - *SLC37A4
OT  - *mutation
EDAT- 2017/02/23 06:00
MHDA- 2017/03/16 06:00
CRDT- 2017/02/23 06:00
PMCR- 2017/05/01
PHST- 2016/07/13 [received]
PHST- 2016/10/12 [revised]
PHST- 2017/01/02 [accepted]
AID - 37.261 [pii]
AID - 10.3343/alm.2017.37.3.261 [doi]
PST - ppublish
SO  - Ann Lab Med. 2017 May;37(3):261-266. doi: 10.3343/alm.2017.37.3.261.

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