SCOPUS 정보 검색 플랫폼

Volumn 19, Issue 3, 2009, Pages 179-181

The exon 55 deletion in the nebulin gene - One single founder mutation with world-wide occurrence

(8) Lehtokari, Vilma Lotta a Greenleaf, Rebecca S b DeChene, Elizabeth T b Kellinsalmi, Mutsumi a Pelin, Katarina a Laing, Nigel G c Beggs, Alan H b Wallgren Pettersson, Carina a

a UNIVERSITY OF HELSINKI (Finland)

b Manton Center for Orphan Disease Research (United States)

c UNIVERSITY OF WESTERN AUSTRALIA (Australia)

Author keywords

Ashkenazi Jews; Mutation; Nebulin; Nemaline myopathy

Indexed keywords

NEBULIN;

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EXON; GENE DELETION; GENE MUTATION; HAPLOTYPE; HOMOZYGOSITY; HUMAN; JEW; NEMALINE MYOPATHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FOUNDER EFFECT; GENE DELETION; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HAPLOTYPES; HOMOZYGOTE; HUMANS; INHERITANCE PATTERNS; JEWS; MALE; MUSCLE PROTEINS; MUTATION; MYOPATHIES, NEMALINE; WORLD HEALTH;

EID: 61849123795 PISSN: 09608966 EISSN: None Source Type: Journal
DOI: 10.1016/j.nmd.2008.12.001 Document Type: Article

Times cited : (48)

References (6)

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- Anderson, S.L.¹ Ekstein, J.² Donnelly, M.C.³

2
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- Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle α-actin
- Wallgren-Pettersson C., Pelin K., Nowak K.J., et al. Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle α-actin. Neuromuscul Disord 14 (2004) 461-470
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3
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- Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts
- Donner K., Sandbacka M., Lehtokari V.L., Wallgren-Pettersson C., and Pelin K. Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts. Eur J Hum Genet 12 (2004) 744-751
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- Donner, K.¹ Sandbacka, M.² Lehtokari, V.L.³ Wallgren-Pettersson, C.⁴ Pelin, K.⁵

4
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- Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
- Pelin K., Hilpela P., Donner K., et al. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. P Natl Acad Sci USA 96 (1999) 2305-2310
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5
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- Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
- Lehtokari V.L., Pelin K., Sandbacka M., et al. Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Hum Mutat 27 (2006) 946-956
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- Lehtokari, V.L.¹ Pelin, K.² Sandbacka, M.³

6
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.