Three novel COLQ mutations and variation of phenotypic expressivity due to G240X

Neurology

Volumn 58, Issue 4, 2002, Pages 603-609

  Shapira, Y A ^a   Sadeh, M E ^b   Bergtraum, M P ^c   Tsujino, A ^d   Ohno, K ^d   Shen, X M ^d   Brengman, J ^d   Edwardson, S ^a   Matoth, I ^a   Engel, A G ^d  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b WOLFSON MEDICAL CENTER   (Israel)

^c Mayo Clinic ^*

^d MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCHOLINESTERASE; COLLAGEN;

ADOLESCENT; ADULT; ANIMAL CELL; ARAB; ARTICLE; BASEMENT MEMBRANE; CELL STRAIN COS1; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; ELECTRON MICROSCOPY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME SUBUNIT; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; IRAQ; JEW; MALE; MICROELECTRODE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; MYASTHENIA; NERVE ENDING; NONHUMAN; ONSET AGE; PHENOTYPE; PRESYNAPTIC MEMBRANE; PRIORITY JOURNAL; PROTEIN EXPRESSION;

EID: 0037176796     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.58.4.603     Document Type: Article

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