(Q71999877)

English

A novel complex mutation in the LDL receptor gene probably caused by the simultaneous occurrence of deletion and insertion in the same region

scientific article published on 01 June 1994

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8005585%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

A novel complex mutation in the LDL receptor gene probably caused by the simultaneous occurrence of deletion and insertion in the same region (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8005585%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

author name string

K Yamakawa-Kobayashi

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8005585%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

T Kobayashi

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8005585%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

H Yanagi

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8005585%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

Y Shimakura

4

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8005585%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

J Satoh

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8005585%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

H Hamaguchi

6

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Europe PubMed Central

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22 October 2019

publication date

1 June 1994

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22 October 2019

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8005585%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

93

1 reference

Europe PubMed Central

PubMed publication ID

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22 October 2019

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8005585%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

625-628

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8005585%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanisms of insertional mutagenesis in human genes causing genetic disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Family studies of the LDL receptor gene of relatively severe hereditary hypercholesterolemia associated with Achilles tendon xanthomas

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two novel frameshift mutations associated with the presence of direct repeats of the LDL receptor gene in familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA sequencing with chain-terminating inhibitors

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational analysis of the ligand binding domain of the low density lipoprotein receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Common low-density lipoprotein receptor mutations in the French Canadian population

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Radiographic determination of Achilles tendon xanthoma size

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transport-deficient mutations in the low density lipoprotein receptor. Alterations in the cysteine-rich and cysteine-poor regions of the protein block intracellular transport

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00201560

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8005585%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8005585%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

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