Literature DB >> 11106362

Exclusion of a disease relevant role of PAX4 in the aetiology of Silver-Russell syndrome: screening for mutations and determination of imprinting status.

S Mergenthaler, K Eggermann, J Tomiuk, M B Ranke, H A Wollmann, T Eggermann.   

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Year:  2000        PMID： 11106362      PMCID： PMC1734507          DOI： 10.1136/jmg.37.12.e44

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  2 in total

1.  Intrahepatic cholestasis of pregnancy: the severe form is associated with common variants of the hepatobiliary phospholipid transporter ABCB4 gene.

Authors:  H E Wasmuth; A Glantz; H Keppeler; E Simon; C Bartz; W Rath; L-A Mattsson; H-U Marschall; F Lammert
Journal:  Gut       Date:  2006-08-04       Impact factor: 23.059

2.  The novel imprinted carboxypeptidase A4 gene ( CPA4) in the 7q32 imprinting domain.

Authors:  Tomohiko Kayashima; Kentaro Yamasaki; Takahiro Yamada; Hideki Sakai; Nobutomo Miwa; Tohru Ohta; Koh-ichiro Yoshiura; Naomichi Matsumoto; Yoshibumi Nakane; Hiroshi Kanetake; Fumitoshi Ishino; Norio Niikawa; Tatsuya Kishino
Journal:  Hum Genet       Date:  2003-01-28       Impact factor: 4.132
  2 in total

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