(Q34762263)

4 August 2017

title

Highly effective SNP-based association mapping and management of recessive defects in livestock (English)

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4 August 2017

25

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4 August 2017

Maria Longeri

24

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Carole Charlier

Carole Charlier

1

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Robert J. Harvey

Robert J Harvey

26

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Claus B Jørgensen

Claus Jorgensen

14

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Wouter Coppieters

2

Wouter Coppieters

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4 August 2017

Frédéric Rollin

3

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4 August 2017

Daniel Desmecht

4

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4 August 2017

Jorgen S Agerholm

5

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4 August 2017

Nadine Cambisano

6

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Eloisa Carta

7

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4 August 2017

Sabrina Dardano

8

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Marc Dive

9

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Corinne Fasquelle

10

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4 August 2017

Jean-Claude Frennet

11

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4 August 2017

Roger Hanset

12

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4 August 2017

Xavier Hubin

13

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Latifa Karim

15

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Matthew Kent

16

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4 August 2017

Kirsten Harvey

17

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4 August 2017

Brian R Pearce

18

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4 August 2017

Patricia Simon

19

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Nico Tama

20

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4 August 2017

Haisheng Nie

21

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4 August 2017

Sébastien Vandeputte

22

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Sigbjorn Lien

23

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Michel Georges

27

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4 August 2017

language of work or name

English

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publication date

16 March 2008

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4 August 2017

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4 August 2017

volume

40

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4 August 2017

issue

4

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4 August 2017

page(s)

449-454

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https://scigraph.springernature.com/pub.10.1038/ng.96

4 August 2017

exact match

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cites work

Estimates of inbreeding and relationship among registered Holstein females in the United States.

1 reference

7 January 2021

Novel multilocus measure of linkage disequilibrium to estimate past effective population size.

1 reference

7 January 2021

Identification and prevalence of a genetic defect that causes leukocyte adhesion deficiency in Holstein cattle

1 reference

7 January 2021

A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation

1 reference

7 January 2021

A nonsense mutation in the alpha1 subunit of the inhibitory glycine receptor associated with bovine myoclonus.

1 reference

7 January 2021

Inherited disorders in Danish cattle

1 reference

7 January 2021

Renal lipofuscinosis in Danish slaughter cattle.

1 reference

7 January 2021

Ichthyosis in Chianina cattle

1 reference

7 January 2021

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

1 reference

7 January 2021

Efficient mapping of mendelian traits in dogs through genome-wide association

1 reference

7 January 2021

Structural basis of ion pumping by Ca2+-ATPase of the sarcoplasmic reticulum

1 reference

7 January 2021

Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease

1 reference

7 January 2021

Calcium ion in skeletal muscle: its crucial role for muscle function, plasticity, and disease

1 reference

7 January 2021

Functional and structural roles of critical amino acids within the"N", "P", and "A" domains of the Ca2+ ATPase (SERCA) headpiece

1 reference

7 January 2021

Deletion of the mouse glycine transporter 2 results in a hyperekplexia phenotype and postnatal lethality

1 reference

7 January 2021

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

1 reference

7 January 2021

Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases

1 reference

7 January 2021

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

1 reference

7 January 2021

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

1 reference

7 January 2021

Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer

1 reference

7 January 2021

ABCA12 is the major harlequin ichthyosis gene

1 reference

7 January 2021

Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie harlequin ichthyosis.

1 reference

7 January 2021

Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis

1 reference

7 January 2021

Characterization of the ABCA transporter subfamily: identification of prokaryotic and eukaryotic members, phylogeny and topology.

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG.96

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4 August 2017

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