(Q34522307)

2 August 2017

Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome (English)

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2 August 2017

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Tom Hearn

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David I. Wilson

object named as

David I Wilson

13

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Karen Piper Hanley

object named as

Karen Piper Hanley

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2 August 2017

Glenn L Renforth

2

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2 August 2017

Cosma Spalluto

3

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2 August 2017

Neil A Hanley

4

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2 August 2017

Sarah Brickwood

6

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2 August 2017

Chris White

7

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2 August 2017

Vincent Connolly

8

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2 August 2017

James F N Taylor

9

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2 August 2017

Isabelle Russell-Eggitt

10

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2 August 2017

Dominque Bonneau

11

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2 August 2017

Mark Walker

12

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2 August 2017

language of work or name

English

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publication date

8 April 2002

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2 August 2017

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2 August 2017

31

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2 August 2017

79-83

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2 August 2017

1

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https://scigraph.springernature.com/pub.10.1038/ng874

2 August 2017

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cites work

Alström syndrome. Report of 22 cases and literature review.

1 reference

7 January 2021

Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families

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7 January 2021

Homozygosity mapping at Alström syndrome to chromosome 2p

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7 January 2021

Refinement of genetic localization of the Alström syndrome on chromosome 2p12-13 by linkage analysis in a North African family.

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7 January 2021

Alström syndrome: further evidence for linkage to human chromosome 2p13.

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7 January 2021

Human DCTN1: genomic structure and evaluation as a candidate for Alström syndrome

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7 January 2021

TGFA: exon-intron structure and evaluation as a candidate gene for Alström syndrome.

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7 January 2021

Characterization of the murine Lbx2 promoter, identification of the human homologue, and evaluation as a candidate for Alström syndrome

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7 January 2021

Protein folding: versatility of the cytosolic chaperonin TRiC/CCT.

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7 January 2021

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

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7 January 2021

Mutations in MKKS cause Bardet-Biedl syndrome

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7 January 2021

Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro

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7 January 2021

Isolation and mapping of a novel human kidney- and liver-specific gene homologous to the bacterial acetyltransferases

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7 January 2021

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

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7 January 2021

Structural organization and classification of the human mucin genes

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7 January 2021

Amplification of cDNA ends based on template-switching effect and step-out PCR.

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7 January 2021

Identifiers

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