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Volumn 19, Issue 2, 2014, Pages 175-179
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A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis
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Author keywords
Charcot Marie Tooth disease; Focal segmental glomerulosclerosis; Inverted formin 2 gene; Whole exome sequencing
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Indexed keywords
DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR;
INVERTED FORMIN 2;
PROTEIN;
STEROID;
UNCLASSIFIED DRUG;
ACTIN BINDING PROTEIN;
INF2 PROTEIN, HUMAN;
ADULT;
ARTICLE;
AUTOSOMAL DOMINANT INHERITANCE;
AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT MARIE TOOTH DISEASE;
CASE REPORT;
CONTROLLED STUDY;
EDEMA;
END STAGE RENAL DISEASE;
EXOME;
FATIGUE;
FEMALE;
FOCAL GLOMERULOSCLEROSIS;
GAIT;
GAIT DISORDER;
GENE MUTATION;
GENE SEGREGATION;
GENE SEQUENCE;
HEREDITARY MOTOR SENSORY NEUROPATHY;
HUMAN;
KIDNEY GRAFT;
MIDDLE AGED;
MOTOR NERVE CONDUCTION;
MUSCLE ACTION POTENTIAL;
MUSCLE ATROPHY;
MUSCLE WEAKNESS;
NERVE CONDUCTION;
NOCICEPTION;
NUCLEAR MAGNETIC RESONANCE IMAGING;
POLYNEUROPATHY;
PRIORITY JOURNAL;
PROTEINURIA;
SENSORIMOTOR NEUROPATHY;
TENDON REFLEX;
TIBIALIS ANTERIOR MUSCLE;
VIBRATION SENSE;
YOUNG ADULT;
ADOLESCENT;
ASIAN CONTINENTAL ANCESTRY GROUP;
COMPLICATION;
FAMILY HEALTH;
GENETICS;
MUTATION;
NUCLEOTIDE SEQUENCE;
ADOLESCENT;
ASIAN CONTINENTAL ANCESTRY GROUP;
CHARCOT-MARIE-TOOTH DISEASE;
DNA MUTATIONAL ANALYSIS;
FAMILY HEALTH;
FEMALE;
GLOMERULOSCLEROSIS, FOCAL SEGMENTAL;
HUMANS;
MICROFILAMENT PROTEINS;
MIDDLE AGED;
MUTATION;
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EID: 84919473296
PISSN: 10859489
EISSN: 15298027
Source Type: Journal
DOI: 10.1111/jns5.12062 Document Type: Article |
Times cited : (16)
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References (13)
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