Linkage disequilibrium mapping of complex disease: fantasy or reality? (Q77796076)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9889136%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

review article

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title

Linkage disequilibrium mapping of complex disease: fantasy or reality? (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9889136%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

1 reference

linkage disequilibrium

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J D Terwilliger

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9889136%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

K M Weiss

series ordinal

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9889136%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

publication date

1 December 1998

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9889136%20AND%20SRC:MED&resulttype=core&format=json

Current Opinion in Biotechnology

8 December 2019

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9889136%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

volume

9

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9889136%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

issue

6

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9889136%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

page(s)

578-594

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9889136%20AND%20SRC:MED&resulttype=core&format=json

It's raining SNPs, hallelujah?

8 December 2019

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Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.

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7 January 2021

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Linkage disequilibrium in finite populations

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7 January 2021

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7 January 2021

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7 January 2021

NAGLU mutations underlying Sanfilippo syndrome type B.

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Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome

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HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.

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7 January 2021

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum

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7 January 2021

Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia

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7 January 2021

Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata

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Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.

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7 January 2021

Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss

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7 January 2021

OA1 mutations and deletions in X-linked ocular albinism

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7 January 2021

Mutations in btk in patients with presumed X-linked agammaglobulinemia

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7 January 2021

Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH).

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7 January 2021

Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome

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7 January 2021

Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria

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7 January 2021

Mutation analysis of UBE3A in Angelman syndrome patients

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7 January 2021

Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families

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7 January 2021

Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

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7 January 2021

10.1016/S0958-1669(98)80135-3

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9889136%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

1 reference