Novel splice-site mutation in ATP8B1 results in atypical Progressive Familial Intrahepatic Cholestasis Type 1

Emily Copeland; Nisa Renault; Marc Renault; Sarah Dyack; Dennis E. Bulman; Karen Bedard; Anthony Otley; Fergall Magee; Philip Acott; Wenda L. Greer

doi:10.1111/j.1440-1746.2012.07290.x

Novel splice-site mutation in ATP8B1 results in atypical Progressive Familial Intrahepatic Cholestasis Type 1

Emily Copeland, Nisa Renault, Marc Renault, Sarah Dyack, Dennis E. Bulman, Karen Bedard, Anthony Otley, Fergall Magee, Philip Acott, Wenda L. Greer

Decision Sciences

科研成果: 期刊稿件 › 文章 › 同行评审

8 引用（Scopus）

源语言	英语
页（从-至）	560-564
页数	5
期刊	Journal of Gastroenterology and Hepatology (Australia)
卷	28
期	3
DOI	https://doi.org/10.1111/j.1440-1746.2012.07290.x
出版状态	已出版 - 3月 2013

!!!ASJC Scopus Subject Areas

肠胃病学
肝脏病学

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10.1111/j.1440-1746.2012.07290.x

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@article{f84d2e9abb514899b916ebc305d750c0,

title = "Novel splice-site mutation in ATP8B1 results in atypical Progressive Familial Intrahepatic Cholestasis Type 1",

keywords = "Abnormal sweat chloride, Bile duct paucity, Byler disease, Cardiac anomaly, Progressive Familial Intrahepatic Cholestasis Type 1, Renal tubular acidosis",

author = "Emily Copeland and Nisa Renault and Marc Renault and Sarah Dyack and Bulman, {Dennis E.} and Karen Bedard and Anthony Otley and Fergall Magee and Philip Acott and Greer, {Wenda L.}",

year = "2013",

month = mar,

doi = "10.1111/j.1440-1746.2012.07290.x",

language = "English",

volume = "28",

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T1 - Novel splice-site mutation in ATP8B1 results in atypical Progressive Familial Intrahepatic Cholestasis Type 1

AU - Copeland, Emily

AU - Renault, Nisa

AU - Renault, Marc

AU - Dyack, Sarah

AU - Bulman, Dennis E.

AU - Bedard, Karen

AU - Otley, Anthony

AU - Magee, Fergall

AU - Acott, Philip

AU - Greer, Wenda L.

PY - 2013/3

Y1 - 2013/3

KW - Abnormal sweat chloride

KW - Bile duct paucity

KW - Byler disease

KW - Cardiac anomaly

KW - Progressive Familial Intrahepatic Cholestasis Type 1

KW - Renal tubular acidosis

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UR - http://www.scopus.com/inward/citedby.url?scp=84874369524&partnerID=8YFLogxK

U2 - 10.1111/j.1440-1746.2012.07290.x

DO - 10.1111/j.1440-1746.2012.07290.x

M3 - Article

AN - SCOPUS:84874369524

SN - 0815-9319

VL - 28

SP - 560

EP - 564

JO - Journal of Gastroenterology and Hepatology (Australia)

JF - Journal of Gastroenterology and Hepatology (Australia)

IS - 3

ER -

Novel splice-site mutation in ATP8B1 results in atypical Progressive Familial Intrahepatic Cholestasis Type 1

!!!ASJC Scopus Subject Areas

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