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Volumn 258, Issue 6, 2011, Pages 1186-1188

A novel mutation of the SGCE-gene in a German family with myoclonus-dystonia syndrome

(8) Hartmann, Christian Johannes a Leube, Barbara a Wojtecki, Lars a Betz, Beate a Groiss, Stefan Jun a Bauer, Peter b Schnitzler, Alfons a Südmeyer, Martin a

a HEINRICH HEINE UNIVERSITY (Germany)

b UNIVERSITY OF TÜBINGEN (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE; ALCOHOL; DNA; EPSILON SARCOGLYCAN; GUANOSINE;

ADULT; ANAMNESIS; AUTOSOMAL DOMINANT INHERITANCE; BLOOD ANALYSIS; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CLINICAL FEATURE; DNA SEQUENCE; ELECTROENCEPHALOGRAPHY; EXON; FEMALE; GERMANY; HUMAN; LETTER; MISSENSE MUTATION; MYOCLONUS DYSTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE ANALYSIS; POINT MUTATION; PRIORITY JOURNAL; URINALYSIS;

ADULT; DNA MUTATIONAL ANALYSIS; DYSTONIC DISORDERS; FAMILY HEALTH; FEMALE; GERMANY; HUMANS; MUTATION; SARCOGLYCANS;

EID: 79959841304 PISSN: 03405354 EISSN: 14321459 Source Type: Journal
DOI: 10.1007/s00415-011-5911-6 Document Type: Letter

Times cited : (3)

References (7)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.