Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction (Q24338354)

17

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Raoul Hennekam

16

object named as

Raoul Hennekam

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Jolanta Wierzba

18

object named as

Jolanta Wierzba

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Janusz Limon

9

object named as

Janusz Limon

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author name string

Diana Braunholz

1

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Melanie Hullings

2

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María Concepcion Gil-Rodríguez

3

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Christopher T Fincher

4

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Mark B Mallozzi

5

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Elizabeth Loy

6

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Melanie Albrecht

7

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Maninder Kaur

8

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Abhinav Rampuria

10

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Dinah Clark

11

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Antonie Kline

12

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Andreas Dalski

13

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Juliane Eckhold

14

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Ian D Krantz

19

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Matthew A Deardorff

20

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Frank J Kaiser

European Journal of Human Genetics

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language of work or name

English

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publication date

March 2012

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published in

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volume

20

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issue

3

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page(s)

271-6

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cites work

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NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

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Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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