Concepedia

Kwang-Min Sohn

KS

2

Publications

166

Citations

2

H-Index

2002

Active since

Affiliations

Sungkyunkwan University(Current)

Samsung Medical Center

Kwang-Min Sohn is an author at Sungkyunkwan University specializing in molecular genetics, medicine, and genetics.

Top concepts

GeneticsMedicineMolecular GeneticsGenomicsBiochemistryHearing LossNeurogeneticsRare DiseasesSystems BiologyNatural Sciences

Publications per year

2002–2007

2

Publications

2

Mutations in PRPS1, Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTX5)

Hee‐Jin Kim, Kwang-Min Sohn, Michael E. Shy et al. · The American Journal of Human Genetics · 2007 · 153 citations · Full text

Molecular Neuroscience, Biochemistry, Genetic Disorder +12

A novel missense mutation (I344K) in the SPG4 gene in a Korean family with autosomal-dominant hereditary spastic paraplegia

Chang‐Seok Ki, Won‐Young Lee, Deok Hyun Han et al. · Journal of Human Genetics · 2002 · 13 citations · Full text

Rare Diseases, Spg4 Gene, Mendelian Disorder +10

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