Mutations in SBDS are associated with Shwachman-Diamond syndrome (Q33963285)

30 July 2017

title

Mutations in SBDS are associated with Shwachman-Diamond syndrome (English)

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30 July 2017

Graeme R B Boocock

1

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30 July 2017

Jodi A Morrison

2

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30 July 2017

Maja Popovic

3

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30 July 2017

Nicole Richards

4

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30 July 2017

Lynda Ellis

5

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30 July 2017

Peter R Durie

6

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30 July 2017

Johanna M Rommens

7

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30 July 2017

language of work or name

English

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publication date

23 December 2002

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30 July 2017

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30 July 2017

volume

33

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30 July 2017

issue

1

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30 July 2017

page(s)

97-101

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THE SYNDROME OF PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION.

30 July 2017

cites work

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Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar

21 January 2018

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Segregation analysis in Shwachman-Diamond syndrome: evidence for recessive inheritance

21 January 2018

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Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.

21 January 2018

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Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene

21 January 2018

1 reference

Prediction of the archaeal exosome and its connections with the proteasome and the translation and transcription machineries by a comparative-genomic approach

21 January 2018

1 reference

Molecular basis of hereditary pancreatitis

21 January 2018

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A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis

21 January 2018

1 reference

A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum.

21 January 2018

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A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

21 January 2018

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The Pfam protein families database

21 January 2018

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Global analysis of protein activities using proteome chips

21 January 2018

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Functional characterization of the S. cerevisiae genome by gene deletion and parallel analysis

21 January 2018

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Large-scale prediction of Saccharomyces cerevisiae gene function using overlapping transcriptional clusters

21 January 2018

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A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

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The Ensembl genome database project

21 January 2018

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PipMaker--a web server for aligning two genomic DNA sequences

21 January 2018

1 reference

The CLUSTAL_X windows interface: flexible strategies for multiple sequence alignment aided by quality analysis tools

21 January 2018

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CONGENITAL HYPOPLASIA OF THE EXOCRINE PANCREAS.

21 January 2018

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7 January 2021

Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II

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7 January 2021

Molecular pathology of 21-hydroxylase deficiency

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7 January 2021

Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome

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7 January 2021

Isolation of RNA using guanidinium salts

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7 January 2021

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7 January 2021

Identifiers

DOI

10.1038/NG1062

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Dimensions Publication ID

30 July 2017

1019532516

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Fatcat ID

release_2qdsvx2hnrfwdblgjyab7hezve

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Fatcat

https://api.fatcat.wiki/v0/release/2qdsvx2hnrfwdblgjyab7hezve

24 November 2022

mapped directly with Wikidata item

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