The mutational spectrum of brachydactyly type C (Q57697307)

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13 December 2019

title

The mutational spectrum of brachydactyly type C (English)

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13 December 2019

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3

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13 December 2019

Roberto Mendoza-Londono

6

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13 December 2019

Susan White

8

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13 December 2019

William G. Newman

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Clair A Francomano

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13 December 2019

author name string

Niranjan Yanamandra

4

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13 December 2019

Ravi Savarirayan

7

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13 December 2019

Eva Svarch

11

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13 December 2019

Vinukonda Govindaiah

15

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13 December 2019

Lalji Singh

16

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13 December 2019

Stuart Morrison

17

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13 December 2019

David B Everman

1

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Cynthia F Bartels

2

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13 December 2019

Frances R Goodman

5

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13 December 2019

John M Graham

9

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Robert Peter Gale

10

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13 December 2019

Albert R Kleckers

13

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J Terrig Thomas

18

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Matthew L Warman

19

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publication date

1 October 2002

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American Journal of Medical Genetics Part A

13 December 2019

published in

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volume

112

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issue

3

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page(s)

291-296

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Regulation of bone morphogenetic protein activity by pro domains and proprotein convertases.

13 December 2019

cites work

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Three-dimensional structure of recombinant human osteogenic protein 1: structural paradigm for the transforming growth factor beta superfamily

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Translational recoding induced by G-rich mRNA sequences that form unusual structures

21 January 2018

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21 January 2018

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The TGF-beta superfamily: new members, new receptors, and new genetic tests of function in different organisms

21 January 2018

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Cartilage-derived morphogenetic protein-1

21 January 2018

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The transforming growth factor-beta family

21 January 2018

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Mutations in CDMP1 cause autosomal dominant brachydactyly type C

21 January 2018

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Clinical and locus heterogeneity in brachydactyly type C.

21 January 2018

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An unusual feature revealed by the crystal structure at 2.2 A resolution of human transforming growth factor-beta 2

21 January 2018

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Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily

21 January 2018

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GDF5 coordinates bone and joint formation during digit development

21 January 2018

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A human chondrodysplasia due to a mutation in a TGF-beta superfamily member

21 January 2018

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Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1

21 January 2018

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Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/AJMG.10777

1 reference

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13 December 2019

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