(Q46438246)

22 December 2017

title

Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene (English)

1 reference

22 December 2017

congenital generalized lipodystrophy

main subject

1 reference

H U Shirwalkar

1

1 reference

22 December 2017

Z M Patel

2

1 reference

22 December 2017

J Magre

3

1 reference

22 December 2017

P Hilbert

4

1 reference

22 December 2017

L Van Maldergem

5

1 reference

22 December 2017

R R Mukhopadhyay

6

1 reference

22 December 2017

A Maitra

7

1 reference

22 December 2017

publication date

12 August 2008

1 reference

22 December 2017

Journal of Inherited Metabolic Disease

published in

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22 December 2017

volume

31 Suppl 2

1 reference

22 December 2017

page(s)

S317-22

1 reference

22 December 2017

https://scigraph.springernature.com/pub.10.1007/s10545-008-0899-5

exact match

0 references

cites work

AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0899-5

Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0899-5

Structure and mapping of the G protein gamma3 subunit gene and a divergently transcribed novel gene, gng3lg

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0899-5

Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0899-5

Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0899-5

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0899-5

Acquired and inherited lipodystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0899-5

Peculiar distribution of adipose tissue in patients with congenital generalized lipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0899-5

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0899-5

Phenotypic Heterogeneity in Body Fat Distribution in Patients with Congenital Generalized Lipodystrophy Caused by Mutations in the AGPAT2 or Seipin Genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0899-5

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0899-5

Congenital lipodystrophy with defective leucocyte function (a case report)

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18690553

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Berardinelli-Seip congenital lipodystrophy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18690553

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10545-008-0899-5

1 reference

22 December 2017

1 reference

22 December 2017