Literature DB >> 19168201

Hereditary protein S deficiency from a novel large deletion mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification (MLPA).

Jong-Ha Yoo1, Hee-Jin Kim, Ho-Young Maeng, Young-Ah Kim, Young-Kyu Sun, Jae-Woo Song, Jong-Rak Choi, Sun-Hee Kim, Kyung-A Lee.   

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Year:  2009        PMID： 19168201     DOI： 10.1016/j.thromres.2008.12.003

Source DB:  PubMed          Journal:  Thromb Res        ISSN： 0049-3848            Impact factor:   3.944


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  3 in total

1.  Heterogeneous lengths of copy number mutations in human coagulopathy revealed by genome-wide high-density SNP array.

Authors:  Hee-Jin Kim; Duk-Kyung Kim; Ki-Young Yoo; Chur-Woo You; Jong-Ha Yoo; Ki-O Lee; In-Ae Park; Hae-Sun Choung; Hee-Jung Kim; Min-Jung Song; Sun-Hee Kim
Journal:  Haematologica       Date:  2011-10-11       Impact factor: 9.941

2.  Hereditary thrombophilia in Korean patients with idiopathic pulmonary embolism.

Authors:  Mirae Lee; Hye Jin No; Shin Yi Jang; Nari Kim; Seung Hyuk Choi; Hojoong Kim; Sun-Hee Kim; Hee-Jin Kim; Duk-Kyung Kim
Journal:  Yonsei Med J       Date:  2012-05       Impact factor: 2.759

3.  Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency.

Authors:  Maria C Pintao; A A Garcia; D Borgel; M Alhenc-Gelas; C A Spek; M C H de Visser; S Gandrille; Pieter H Reitsma
Journal:  Hum Genet       Date:  2009-05-23       Impact factor: 4.132
  3 in total

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