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Linkage disequilibrium mapping of complex disease: fantasy or reality?
scientific article published on 01 December 1998
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
9889136
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9889136%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
review article
1 reference
stated in
Europe PubMed Central
title
Linkage disequilibrium mapping of complex disease: fantasy or reality?
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
9889136
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9889136%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
main subject
disequilibrium
1 reference
based on heuristic
inferred from title
linkage disequilibrium
1 reference
based on heuristic
inferred from title
author name string
J D Terwilliger
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
9889136
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9889136%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
K M Weiss
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
9889136
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9889136%20AND%20SRC:MED&resulttype=core&format=json
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8 December 2019
publication date
1 December 1998
1 reference
stated in
Europe PubMed Central
PubMed ID
9889136
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9889136%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
published in
Current Opinion in Biotechnology
1 reference
stated in
Europe PubMed Central
PubMed ID
9889136
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9889136%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
volume
9
1 reference
stated in
Europe PubMed Central
PubMed ID
9889136
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9889136%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
page(s)
578-594
1 reference
stated in
Europe PubMed Central
PubMed ID
9889136
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9889136%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
issue
6
1 reference
stated in
Europe PubMed Central
PubMed ID
9889136
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9889136%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
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Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations of the Fanconi anemia group A gene (FAA) in Italian patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
NAGLU mutations underlying Sanfilippo syndrome type B.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterization of mutations in patients with multiple endocrine neoplasia type 1.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
OA1 mutations and deletions in X-linked ocular albinism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in btk in patients with presumed X-linked agammaglobulinemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation analysis of UBE3A in Angelman syndrome patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0958-1669%2898%2980135-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0958-1669(98)80135-3
1 reference
stated in
Europe PubMed Central
PubMed ID
9889136
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9889136%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
PubMed ID
9889136
1 reference
stated in
Europe PubMed Central
PubMed ID
9889136
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9889136%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 December 2019
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