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Mutant WD-repeat protein in triple-A syndrome
scientific article (publication date: November 2000)
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scholarly article
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title
Mutant WD-repeat protein in triple-A syndrome
(English)
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main subject
triple-A syndrome
1 reference
based on heuristic
inferred from title
author
Laurence Cattolico
series ordinal
9
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Jean Weissenbach
series ordinal
15
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Arnold Munnich
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16
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Smail Hadj-rabia
object named as
S Hadj-Rabia
series ordinal
3
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Stanislas Lyonnet
object named as
S Lyonnet
series ordinal
17
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author name string
A Tullio-Pelet
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1
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R Salomon
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2
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C Mugnier
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4
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M H de Laet
series ordinal
5
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B Chaouachi
series ordinal
6
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F Bakiri
series ordinal
7
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P Brottier
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8
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C Penet
series ordinal
10
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M Bégeot
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11
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D Naville
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12
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M Nicolino
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13
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J L Chaussain
series ordinal
14
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language of work or name
English
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publication date
November 2000
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published in
Nature Genetics
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volume
26
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page(s)
332-5
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issue
3
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cites work
Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production
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Familial achalasia associated with adrenocortical insufficiency, alacrima, and neurological abnormalities
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Allgrove syndrome: an autosomal recessive syndrome of ACTH insensitivity, achalasia and alacrima
1 reference
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inferred from DOI database lookup
Allgrove syndrome: documenting cholinergic dysfunction by autonomic tests.
1 reference
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reference URL
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The "4A" syndrome: adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities
1 reference
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Familial glucocorticoid deficiency with achalasia of the cardia associated with mixed neuropathy, long-tract degeneration and mild dementia
1 reference
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reference URL
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Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F81642
retrieved
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based on heuristic
inferred from DOI database lookup
Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome
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A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India
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The ancient regulatory-protein family of WD-repeat proteins
1 reference
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Folding of proteins with WD-repeats: comparison of six members of the WD-repeat superfamily to the G protein beta subunit.
1 reference
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The WD repeat: a common architecture for diverse functions
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Adrenocorticotropin insensitivity syndromes
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The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH
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A comprehensive genetic map of the human genome based on 5,264 microsatellites
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SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)
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The role of yeast artificial chromosome clones in generating genome maps
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An improved approach for construction of bacterial artificial chromosome libraries.
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Identifiers
DOI
10.1038/81642
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3203503
OpenCitations bibliographic resource ID
3203503
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3203503
PubMed ID
11062474
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3203503
ResearchGate publication ID
12265400
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Springer Nature article ID
10.1038/81642
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