Identification of genetic causes of inherited peripheral neuropathies by targeted gene panel sequencing

Molecules and Cells

Volumn 39, Issue 5, 2016, Pages 382-388

  Nam, Soo Hyun ^a   Hong, Young Bin ^b   Hyun, Young Se ^a   Nam, Da Eun ^a   Kwak, Geon ^c   Hwang, Sun Hee ^c   Choi, Byung Ok ^b,c   Chung, Ki Wha ^a  

^a Kongju National University   (South Korea)

^b Samsung Medical Center   (South Korea)

^c Sungkyunkwan University   (South Korea)

Author keywords

Charcot marie tooth disease (CMT); DCTN1; Gene panel; Inherited peripheral neuropathy; MARS; SPTLC2

Indexed keywords

ARTICLE; CHARCOT MARIE TOOTH DISEASE 1; CHARCOT MARIE TOOTH DISEASE 1A; CHARCOT MARIE TOOTH DISEASE 2; CHARCOT MARIE TOOTH DISEASE 4; CHROMOSOME 17P; CHROMOSOME DUPLICATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DCTN1 GENE; DISTAL HEREDITARY MOTOR NEUROPATHY; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENE TARGETING; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY SENSORY AUTONOMOUS NEUROPATHY; HUMAN; INHERITED PERIPHERAL NEUROPATHY; MAJOR CLINICAL STUDY; MARS GENE; MUTATIONAL ANALYSIS; PATHOGENESIS; PEDIGREE; PERIPHERAL NEUROPATHY; SPTLC2 GENE; CHROMOSOME 17; DNA SEQUENCE; FEMALE; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; MALE; MUTATION; PROCEDURES; SOUTH KOREA;

DCTN1 PROTEIN, HUMAN; DYNACTIN; SERINE PALMITOYLTRANSFERASE; SPTLC2 PROTEIN, HUMAN;

CHROMOSOMES, HUMAN, PAIR 17; DYNACTIN COMPLEX; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MUTATION; PERIPHERAL NERVOUS SYSTEM DISEASES; REPUBLIC OF KOREA; SEQUENCE ANALYSIS, DNA; SERINE C-PALMITOYLTRANSFERASE;

EID: 84983030804     PISSN: 10168478     EISSN: 02191032     Source Type: Journal    
DOI: 10.14348/molcells.2016.2288     Document Type: Article

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