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Neurology

Volumn 72, Issue 7, 2009, Pages 617-620

A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H

(4) Houlden, Henry a,c Hammans, Simon b Katifi, Haider b Reilly, Mary M a

a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY (United Kingdom)

b SOUTHAMPTON GENERAL HOSPITAL (United Kingdom)

c UNIVERSITY COLLEGE LONDON (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN BINDING PROTEIN; MESSENGER RNA; PROTEIN FRABIN; UNCLASSIFIED DRUG; FGD4 PROTEIN, HUMAN;

ADULT; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DEMYELINATING NEUROPATHY; DISEASE COURSE; ELECTROPHYSIOLOGY; FEMALE; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LYMPHOBLAST; MALE; NONSENSE MUTATION; PHENOTYPIC VARIATION; PRIORITY JOURNAL; AMINO ACID SEQUENCE; COHORT ANALYSIS; COMPARATIVE STUDY; GENETIC VARIABILITY; GENETICS; MIDDLE AGED; MOLECULAR GENETICS; PEDIGREE; PHENOTYPE; STOP CODON; UNITED KINGDOM;

ADULT; AMINO ACID SEQUENCE; CHARCOT-MARIE-TOOTH DISEASE; CODON, NONSENSE; COHORT STUDIES; FEMALE; GENETIC VARIATION; HUMANS; MALE; MICROFILAMENT PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; NORTHERN IRELAND; PEDIGREE; PHENOTYPE;

EID: 61849087866 PISSN: 00283878 EISSN: 1526632X Source Type: Journal
DOI: 10.1212/01.wnl.0000342463.35089.cc Document Type: Article

Times cited : (34)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.