Single nucleotide polymorphism in a commonly utilized LAMB3 primer sequence: Implications for mutation detection and haplotype analysis in junctional epidermolysis bullosa

Lu Liu; Yew Sing Choy; Vesarat Wessagowit; Linda Ozoemena; Patricia J.C. Dopping-Hepenstal; Hiva Fassihi; John A. McGrath

doi:10.1016/j.jdermsci.2006.05.009

Single nucleotide polymorphism in a commonly utilized LAMB3 primer sequence: Implications for mutation detection and haplotype analysis in junctional epidermolysis bullosa

Journal of Dermatological Science ◽

10.1016/j.jdermsci.2006.05.009 ◽

2006 ◽

Vol 44 (1) ◽

pp. 48-51 ◽

Cited By ~ 2

Author(s):

Lu Liu ◽

Yew Sing Choy ◽

Vesarat Wessagowit ◽

Linda Ozoemena ◽

Patricia J.C. Dopping-Hepenstal ◽

...

Keyword(s):

Single Nucleotide Polymorphism ◽

Epidermolysis Bullosa ◽

Haplotype Analysis ◽

Mutation Detection ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Junctional Epidermolysis Bullosa ◽

Primer Sequence

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Faculty Opinions recommendation of Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1168314.630476 ◽

2009 ◽

Author(s):

Dedee Murrell ◽

Heather Cohn

Keyword(s):

Single Nucleotide Polymorphism ◽

Disease Severity ◽

Epidermolysis Bullosa ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Dystrophic Epidermolysis Bullosa ◽

Mmp1 Promoter

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Faculty Opinions recommendation of Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.732564453.793548151 ◽

2018 ◽

Author(s):

Dimitra Kiritsi

Keyword(s):

Single Nucleotide Polymorphism ◽

Epidermolysis Bullosa ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Autozygosity Mapping ◽

Genome Wide

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Forty-two novelCOL7A1mutations and the role of a frequent single nucleotide polymorphism in theMMP1promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort

British Journal of Dermatology ◽

10.1111/j.1365-2133.2009.09333.x ◽

2009 ◽

Vol 161 (5) ◽

pp. 1089-1097 ◽

Cited By ~ 42

Author(s):

J.S. Kern ◽

G. Grüninger ◽

R. Imsak ◽

M.L. Müller ◽

H. Schumann ◽

...

Keyword(s):

Single Nucleotide Polymorphism ◽

Disease Severity ◽

Epidermolysis Bullosa ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Dystrophic Epidermolysis Bullosa

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Nanodiagnostics: fast colorimetric method for single nucleotide polymorphism/mutation detection

IET Nanobiotechnology ◽

10.1049/iet-nbt:20070001 ◽

2007 ◽

Vol 1 (4) ◽

pp. 53 ◽

Cited By ~ 65

Author(s):

G. Doria ◽

R. Franco ◽

P. Baptista

Keyword(s):

Single Nucleotide Polymorphism ◽

Mutation Detection ◽

Colorimetric Method ◽

Nucleotide Polymorphism ◽

Single Nucleotide

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Haplotype Analysis and Single Nucleotide Polymorphism Frequency of PEPT1 Gene (Exon 5 and 16) in Korean

Journal of Korean Pharmaceutical Sciences ◽

10.4333/kps.2009.39.6.411 ◽

2009 ◽

Vol 39 (6) ◽

pp. 411-416 ◽

Cited By ~ 1

Author(s):

Se-Mi Kim ◽

Sang-No Lee ◽

Hyun-Ah Kang ◽

Hea-Young Cho ◽

Il-Kwon Lee ◽

...

Keyword(s):

Single Nucleotide Polymorphism ◽

Haplotype Analysis ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Single Nucleotide Polymorphism Frequency ◽

Gene Exon

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A Modified Mutation Detection Method for Large-scale Cloning of the Possible Single Nucleotide Polymorphism Sequences

BMB Reports ◽

10.5483/bmbrep.2005.38.2.191 ◽

2005 ◽

Vol 38 (2) ◽

pp. 191-197

Author(s):

Ming-Chung Jiang ◽

Pao-Chu Jiang ◽

Ching-Fong Liao ◽

Ching-Chiu Lee

Keyword(s):

Single Nucleotide Polymorphism ◽

Large Scale ◽

Mutation Detection ◽

Detection Method ◽

Nucleotide Polymorphism ◽

Single Nucleotide

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793 Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa

Journal of Investigative Dermatology ◽

10.1016/j.jid.2018.03.803 ◽

2018 ◽

Vol 138 (5) ◽

pp. S135

Author(s):

A. Jazayeri ◽

H. Vahidnezhad ◽

L. Youssefian ◽

A. Saeidian ◽

S. Zeinali ◽

...

Keyword(s):

Single Nucleotide Polymorphism ◽

Epidermolysis Bullosa ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Autozygosity Mapping ◽

Genome Wide

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Optimum sample medium for single-nucleotide polymorphism and mutation detection by capillary electrophoresis

Electrophoresis ◽

10.1002/elps.200305782 ◽

2004 ◽

Vol 25 (78) ◽

pp. 990-998 ◽

Cited By ~ 13

Author(s):

Piotr Kozlowski ◽

Wlodzimierz J. Krzyzosiak

Keyword(s):

Single Nucleotide Polymorphism ◽

Capillary Electrophoresis ◽

Mutation Detection ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Optimum Sample

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Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism

Human Mutation ◽

10.1002/(sici)1098-1004(1999)14:1<23::aid-humu3>3.0.co;2-# ◽

1999 ◽

Vol 14 (1) ◽

pp. 23-29 ◽

Cited By ~ 10

Author(s):

Benjamin Glaser ◽

Judith Furth ◽

Charles A. Stanley ◽

Lester Baker ◽

Paul S. Thornton ◽

...

Keyword(s):

Single Nucleotide Polymorphism ◽

Haplotype Analysis ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Single Nucleotide Polymorphism Haplotype

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521 Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa

Journal of Investigative Dermatology ◽

10.1016/j.jid.2017.02.541 ◽

2017 ◽

Vol 137 (5) ◽

pp. S89

Author(s):

M. Zahabiyon ◽

H. Vahidnezhad ◽

L. Youssefian ◽

A. Saeidian ◽

S. Zeinali ◽

...

Keyword(s):

Single Nucleotide Polymorphism ◽

Epidermolysis Bullosa ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Autozygosity Mapping ◽

Genome Wide

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