(Q33675493)

28 July 2017

title

Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus (English)

1 reference

lethal congenital contracture syndrome

28 July 2017

0 references

0 references

anterior horn cell disease

1 reference

Vuopala K

1

1 reference

28 July 2017

Mäkelä-Bengs P

2

1 reference

28 July 2017

Suomalainen A

3

1 reference

28 July 2017

Herva R

4

1 reference

28 July 2017

Leisti J

5

1 reference

28 July 2017

Peltonen L

6

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 January 1995

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

32

1 reference

28 July 2017

issue

1

1 reference

28 July 2017

page(s)

36-38

1 reference

Fine mapping and narrowing of the genetic interval of the spinal muscular atrophy region by linkage studies

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050176

Lethal congenital contracture syndrome: further delineation and genetic aspects

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050176

Strategies for multilocus linkage analysis in humans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050176

A lethal autosomal recessive syndrome of multiple congenital contractures

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050176

A syndrome of multiple congenital contractures: neuropathological analysis on five fetal cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050176

X-linked infantile spinal muscular atrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050176

Computer-simulation methods in human linkage analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050176

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050176

Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050176

Autoimmune polyglandular disease type I. Exclusion map using amplifiable multiallelic markers in a microtiter well format.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050176

Early prenatal diagnosis of a lethal syndrome of multiple congenital contractures

30 October 2018

1 reference

12 December 2020

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

1 reference

12 December 2020

Genetic homogeneity between acute and chronic forms of spinal muscular atrophy

1 reference

12 December 2020

Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B

1 reference

12 December 2020

Linkage mapping of the spinal muscular atrophy gene

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.32.1.36

1 reference

release_bnwi7queujajhfmsve4oribn6y

28 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/bnwi7queujajhfmsve4oribn6y

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1050176

1 reference

28 July 2017

1 reference