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Journal of Molecular Diagnostics

Volumn 10, Issue 5, 2008, Pages 469-474

A pseudo-full mutation identified in fragile x assay reveals a novel base change abolishing an EcoRI restriction site

(6) Liang, Shujian a Bass, Harold N b Gao, Hanlin c Astbury, Caroline a,d Jamehdor, Mehdi R a Qu, Yong a

a KAISER PERMANENTE (United States)

b KAISER PERMANENTE MEDICAL CENTER (United States)

c CITY OF HOPE NATIONAL MEDICAL CENTER (United States)

d NATIONWIDE CHILDREN S HOSPITAL (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTISM; CASE REPORT; FEMALE; FMRI GENE; FRAGILE X SYNDROME; GENE; GENE MUTATION; HUMAN; NUCLEOTIDE SEQUENCE; SCHOOL CHILD; SEQUENCE ALIGNMENT; SOUTHERN BLOTTING;

EID: 52249109981 PISSN: 15251578 EISSN: None Source Type: Journal
DOI: 10.2353/jmoldx.2008.080059 Document Type: Article

Times cited : (3)

References (7)

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- Sherman, S.¹ Pletcher, B.A.² Driscoll, D.A.³

2
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- Duplication of the 15q 11-13 region in a patient with autism, epilepsy and ataxia
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- Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
- Fu YH, Kuhl DPA, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJMH, Holden JJA, Fenwick RG Jr, Warren ST, Oostra BA, Nelson DL, Caskey CT: Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox Cell 1991, 67:1047-1058
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- Fu, Y.H.¹ Kuhl, D.P.A.² Pizzuti, A.³ Pieretti, M.⁴ Sutcliffe, J.S.⁵ Richards, S.⁶ Verkerk, A.J.M.H.⁷ Holden, J.J.A.⁸ Fenwick Jr, R.G.⁹ Warren, S.T.¹⁰ Oostra, B.A.¹¹ Nelson, D.L.¹² Caskey, C.T.¹³

4
- 0034252428
- Novel polymorphism in the FMR1 gene resulting in a "pseudodeletion" of FMR1 in a commonly used fragile X assay
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5
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- Five years of molecular diagnosis of fragile X syndrome (1997-2001): A collaborative study reporting 95% of the activity in France
- The French National Working Group on Fragile X syndrome
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7
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.