SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma

Neurology

Volumn 63, Issue 3, 2004, Pages 577-580

  Hirano, R ^a   Takashima, Hiroshi ^a   Umehara, F ^a   Arimura, H ^a   Michizono, K ^a   Okamoto, Y ^a   Nakagawa, M ^b   Boerkoel, C F ^c   Lupski, J R ^c   Osame, M ^a   Arimura, K ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

^b KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; MYELIN; SET BINDING FACTOR 2; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILDHOOD DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; DEMYELINATING DISEASE; FAMILIAL DISEASE; FEMALE; GENE; GENE MUTATION; GENE SEGREGATION; GENETIC ASSOCIATION; GLAUCOMA; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; JAPAN; MALE; MOTOR NERVE CONDUCTION; NEUROPATHY; NONSENSE MUTATION; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FOLDING; SBF2 GENE; SCHOOL CHILD;

EID: 3543095095     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000133211.40288.9A     Document Type: Article

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