SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3

Neurology

Volumn 81, Issue 2, 2013, Pages 165-173

  Nakhro, Khriezhanuo ^a   Park, Jin Mo ^b   Hong, Young Bin ^b   Park, Ji Hoon ^a   Nam, Soo Hyun ^a   Yoon, Bo Ram ^a   Yoo, Jeong Hyun ^c   Koo, Heasoo ^d   Jung, Sung Chul ^e   Kim, Hyung Lae ^e   Kim, Ji Yon ^f   Choi, Kyoung Gyu ^b   Choi, Byung Ok ^b   Chung, Ki Wha ^a  

^a Kongju National University   (South Korea)

^b Seoul National University   (South Korea)

^c Seoul National University Hospital   (South Korea)

^d Departments of Pathology   (South Korea)

^e Departments of Biochemistry   (South Korea)

^f Ewha Womans University School of Medicine   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; MEMBRANE PROTEIN; SET BINDING FACTOR 1; UNCLASSIFIED DRUG;

ACTION POTENTIAL; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BICEPS BRACHII MUSCLE; CELL PROLIFERATION; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE DURATION; EXOME; FEMALE; FLATFOOT; GENE FREQUENCY; GLAUCOMA; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; MALE; MEDIAN NERVE; MISSENSE MUTATION; MOLECULAR DIAGNOSTICS; MOTOR NERVE CONDUCTION; MUSCLE ATROPHY; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYELIN SHEATH; MYELINATED NERVE; NERVE BIOPSY; PERONEUS NERVE; PHENOTYPE; PRIORITY JOURNAL; SCOLIOSIS; SENSORY NERVE CONDUCTION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SURAL NERVE; TIBIAL NERVE; ULNAR NERVE;

ADULT; CHARCOT-MARIE-TOOTH DISEASE; EXOME; FEMALE; GENOTYPE; HETEROZYGOTE DETECTION; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; REPUBLIC OF KOREA; TRANSCRIPTOME; YOUNG ADULT;

EID: 84881282144     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31829a3421     Document Type: Article

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