- A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature
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Cheon CK, Lee HS, Kim SY, Kwak MJ, Kim GH, Yoo HW
- KMID: 1702662
- Ann Pediatr Endocrinol Metab.
- 2014 Mar;19(1):36-41.
- doi: 10.6065/apem.2014.19.1.36
X-linked hypophosphatemia (XLH) is the most common form of familial hypophosphatemic rickets and it is caused by loss-of-function mutations in the PHEX gene. Recently, a wide variety of PHEX gene... -
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- Detection of point mutation at C-terminal region of phagosomal coat protein (TACO) in patients with leprosy
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Kim SK, Kang TJ, Kim BC, Chae GT
- KMID: 1516979
- Korean Lepr Bull.
- 2003 Jul;36(1):11-26.
Mycobacteria, which are highly successful pathogen, resist delivary to lysosomes and instead survive within a specialized vacuole, the mycobacterial phagosome. The bacteria survive intracellularly because they are able to actively... -
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- Menin Mutational Analysis in a MEN I Family
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Lee KD, Kim JY, Mun HS, Choi SH, Lee HH, Choi YS, Park YH, Uchino S
- KMID: 2276365
- Korean J Otolaryngol-Head Neck Surg.
- 2005 Mar;48(3):347-351.
BACKGROUND AND OBJECTIVES: MEN I is an autosomal dominant disorder characterized by multiple tumors occurring in the parathyroid, pituitary, and pancreas. There is a variety of mutations in MEN I... -
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- Microsatellite Instability and hMSH2 Gene Mutations in Sporadic Colorectal Cancers
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Jeon HM, Oh ST, Kim JS, Chang SK, Kim JS
- KMID: 2101319
- J Korean Soc Coloproctol.
- 1998 Mar;14(1):41-49.
Microsatellites are short nucleotide repeat sequences present throughout the human genome. Alterations of microsatellites, comprising extra or missing copies of these se quences, have been termed microsatellite instability(MSI, genetic instability,... -
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- Long-term clinical outcome and the identification of homozygous CYP27B1 gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A
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Cho JH, Kang E, Kim GH, Lee BH, Choi JH, Yoo HW
- KMID: 2366794
- Ann Pediatr Endocrinol Metab.
- 2016 Sep;21(3):169-173.
- doi: 10.6065/apem.2016.21.3.169
Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A) is an autosomal recessively-inherited disorder caused by mutations in CYP27B1 encoding the 1α-hydroxylase enzyme. We report on a female patient with VDDR1A who... -
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- Molecular Characterization of the NF2 Gene in Korean Patients with Neurofibromatosis Type 2: A Report of Four Novel Mutations
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Seong MW, Yeo IK, Cho SI, Park CK, Kim SK, Paek SH, Kim DG, Jung HW, Park H, Kim SY, Kim JY, Park SS
- KMID: 1096807
- Korean J Lab Med.
- 2010 Apr;30(2):190-194.
- doi: 10.3343/kjlm.2010.30.2.190
BACKGROUND: Neurofibromatosis type 2 (NF2) is an autosomal dominant syndrome caused by the NF2 tumor suppressor gene. However, the NF2 mutation characteristics in Korean patients are not sufficiently understood. In... -
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- A Case Report of Fanconi Anemia Diagnosed by Genetic Testing Followed by Prenatal Diagnosis
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Lee HJ, Park S, Kang HJ, Jun JK, Lee JA, Lee DS, Park SS, Seong MW
- KMID: 1387356
- Ann Lab Med.
- 2012 Sep;32(5):380-384.
- doi: 10.3343/alm.2012.32.5.380
Fanconi anemia (FA) is a rare genetic disorder affecting multiple body systems. Genetic testing, including prenatal testing, is a prerequisite for the diagnosis of many clinical conditions. However, genetic testing... -
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