Literature DB >> 11874497

A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2.

Takaki Hashiguchi, Shinichi Yotsumoto, Hidehiko Shimada, Kenjiro Terasaki, Mitsuru Setoyama, Keiko Kobayashi, Takeyori Saheki, Tamotsu Kanzaki.   

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Year:  2002        PMID： 11874497     DOI： 10.1046/j.0022-202x.2001.01701.x

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  4 in total

1.  KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies.

Authors:  Mine Koprulu; Muhammad Naeem; Gökhan Nalbant; Rana M Kamran Shabbir; Tariq Mahmood; Zele Huma; Sajid Malik; Aslıhan Tolun
Journal:  Eur J Hum Genet       Date:  2022-06-09       Impact factor: 4.246

2.  Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair.

Authors:  Nadia Chuzhanova; Jian-Min Chen; Albino Bacolla; George P Patrinos; Claude Férec; Robert D Wells; David N Cooper
Journal:  Hum Mutat       Date:  2009-08       Impact factor: 4.878

3.  NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.

Authors:  Piotr Dittwald; Tomasz Gambin; Przemyslaw Szafranski; Jian Li; Stephen Amato; Michael Y Divon; Lisa Ximena Rodríguez Rojas; Lindsay E Elton; Daryl A Scott; Christian P Schaaf; Wilfredo Torres-Martinez; Abby K Stevens; Jill A Rosenfeld; Satish Agadi; David Francis; Sung-Hae L Kang; Amy Breman; Seema R Lalani; Carlos A Bacino; Weimin Bi; Aleksandar Milosavljevic; Arthur L Beaudet; Ankita Patel; Chad A Shaw; James R Lupski; Anna Gambin; Sau Wai Cheung; Pawel Stankiewicz
Journal:  Genome Res       Date:  2013-05-08       Impact factor: 9.043

4.  Gene conversion in human genetic disease.

Authors:  Jian-Min Chen; Claude Férec; David N Cooper
Journal:  Genes (Basel)       Date:  2010-12-22       Impact factor: 4.096
  4 in total

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