(Q40865028)

English

Refined assignment of the infantile neuronal ceroid-lipofuscinosis (INCL) locus at 1p32 and the current status of prenatal and carrier diagnostics

scientific article published on January 1993

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

1 reference

Europe PubMed Central

Refined assignment of the infantile neuronal ceroid-lipofuscinosis (INCL) locus at 1p32 and the current status of prenatal and carrier diagnostics (English)

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

Infantile neuronal ceroid lipofuscinosis

0 references

Tomi P. Mäkelä

4

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

author name string

E Hellsten

1

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

J Vesa

2

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

I Järvelä

3

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

P Santavuori

5

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

L Peltonen

6

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

1 January 1993

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

16

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

335-338

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

https://scigraph.springernature.com/pub.10.1007/bf00710277

0 references

Construction of a genetic linkage map in man using restriction fragment length polymorphisms

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuronal ceroid-lipofuscinoses in childhood

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A single PCR marker in strong allelic association with the infantile form of neuronal ceroid lipofuscinosis facilitates reliable prenatal diagnostics and disease carrier identification

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infantile type of so-called neuronal ceroid-lipofuscinosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA-based prenatal diagnosis of the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1).

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of the infantile type of neuronal ceroid lipofuscinosis by electron microscopic investigation of human chorionic villi

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An Alu variable polyA repeat polymorphism upstream of L-myc at 1p32.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infantile type of so-called neuronal ceroid-lipofuscinosis. 2. Morphological and biochemical studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411993

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00710277

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

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