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European Journal of Medical Genetics

Volumn 49, Issue 2, 2006, Pages 201-206

A TNNI2 mutation in a family with distal arthrogryposis type 2B

(2) Shrimpton, Antony E a Hoo, Joe J a

a State University of New York Upstate Medical University: College of Medicine (United States)

Author keywords

E167; Distal arthrogryposis; TNNI2; Variable expression

Indexed keywords

TROPONIN I;

ADULT; ARTHROGRYPOSIS; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FAMILY ASSESSMENT; FEMALE; FOLLOW UP; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; HETEROZYGOTE DETECTION; HUMAN; INFANT; MALE; PHYSICAL EXAMINATION;

ARTHROGRYPOSIS; FEMALE; HUMANS; MALE; MICROSATELLITE REPEATS; MUTATION; PEDIGREE; TROPONIN I;

EID: 33644855962 PISSN: 17697212 EISSN: None Source Type: Journal
DOI: 10.1016/j.ejmg.2005.06.003 Document Type: Article

Times cited : (26)

References (6)

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2
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- Localization of the skeletal muscle troponin I gene (TNNI2) to 11p15.5:genes for troponin I and T are organized in pairs
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3
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- A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter
- P.A. Krakowiak, J.R. O'Quinn, J.F. Bohnsack, W.S. Watkins, J.C. Carey, L.B. Jorde, and M. Bamshad A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter Am. J. Hum. Genet. 60 1997 426 432
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4
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- Mapping a gene (MRXS9) for X-linked mental retardation, microcephaly, and variable short stature to Xq12-q21.31
- A.E. Shrimpton, K.M. Daly, and J.J. Hoo Mapping a gene (MRXS9) for X-linked mental retardation, microcephaly, and variable short stature to Xq12-q21.31 Am. J. Med. Genet. 84 1999 293 299
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- Shrimpton, A.E.¹ Daly, K.M.² Hoo, J.J.³

5
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- Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes
- S.S. Sung, A.-M.E. Brassington, K. Grannatt, A. Rutherford, F.G. Whitby, P.A. Krakowiak, L.B. Jorde, J.C. Carey, and M. Bamshad Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes Am. J. Hum. Genet. 72 2003 681 690
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6
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- Mutations in TNNT3 cause multiple congenital contractures: A second locus for Distal Arthrogryposis type 2B
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.