[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND PARTIAL PROTEIN SEQUENCE.
TISSUE=Placenta, and Testis;
DOI=10.1111/j.1432-1033.1994.tb19954.x; PubMed=8307007 [NCBI, ExPASy, EBI, Israel, Japan]
Proudfoot A.E.I.,
Turcatti G.,
Wells T.N.C.,
Payton M.A.,
Smith D.J.;
"Purification, cDNA cloning and heterologous expression of human phosphomannose isomerase.";
Eur. J. Biochem. 219:415-423(1994).
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[2]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS CDG1B THR-51; ASN-131; GLN-152; SER-250 AND HIS-418.
DOI=10.1002/1098-1004(200009)16:3<247::AID-HUMU7>3.0.CO;2-A; PubMed=10980531 [NCBI, ExPASy, EBI, Israel, Japan]
Schollen E.,
Dorland L.,
de Koning T.J.,
Van Diggelen O.P.,
Huijmans J.G.M.,
Marquardt T.,
Babovic-Vuksanovic D.,
Patterson M.,
Imtiaz F.,
Winchester B.,
Adamowicz M.,
Pronicka E.,
Freeze H.,
Matthijs G.;
"Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).";
Hum. Mutat. 16:247-252(2000).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
TISSUE=Blood, and Brain;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[4]
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IDENTIFICATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
Colinge J.,
Superti-Furga G.,
Bennett K.L.;
Submitted (OCT-2008) to UniProtKB.
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[5]
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VARIANTS CDG1B LEU-102 AND THR-138.
DOI=10.1086/301873; PubMed=9585601 [NCBI, ExPASy, EBI, Israel, Japan]
Jaeken J.,
Matthijs G.,
Saudubray J.-M.,
Dionisi-Vici C.,
Bertini E.,
de Lonlay P.,
Henri H.,
Carchon H.,
Schollen E.,
Van Schaftingen E.;
"Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.";
Am. J. Hum. Genet. 62:1535-1539(1998).
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[6]
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VARIANT CDG1B GLN-219.
PubMed=9525984 [NCBI, ExPASy, EBI, Israel, Japan]
Niehues R.,
Hasilik M.,
Alton G.,
Koerner C.,
Schiebe-Sukumar M.,
Koch H.G.,
Zimmer K.-P.,
Wu R.,
Harms E.,
Reiter K.,
von Figura K.,
Freeze H.H.,
Harms H.K.,
Marquardt T.;
"Carbohydrate-deficient glycoprotein syndrome type Ib: phosphomannose isomerase deficiency and mannose therapy.";
J. Clin. Invest. 101:1414-1420(1998).
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[7]
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VARIANTS CDG1B CYS-255 AND THR-398.
DOI=10.1136/jmg.38.1.14; PubMed=11134235 [NCBI, ExPASy, EBI, Israel, Japan]
de Lonlay P.,
Seta N.,
Barrot S.,
Chabrol B.,
Drouin V.,
Gabriel B.M.,
Journel H.,
Kretz M.,
Laurent J.,
Le Merrer M.,
Leroy A.,
Pedespan D.,
Sarda P.,
Villeneuve N.,
Schmitz J.,
van Schaftingen E.,
Matthijs G.,
Jaeken J.,
Koerner C., ![]()
Munnich A.,
Saudubray J.-M.,
Cormier-Daire V.;
"A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.";
J. Med. Genet. 38:14-19(2001).
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[8]
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VARIANTS CDG1B THR-140 AND GLN-219.
DOI=10.1006/mgme.2001.3161; PubMed=11350186 [NCBI, ExPASy, EBI, Israel, Japan]
Westphal V.,
Kjaergaard S.,
Davis J.A.,
Peterson S.M.,
Skovby F.,
Freeze H.H.;
"Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation.";
Mol. Genet. Metab. 73:77-85(2001).
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[9]
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VARIANT CDG1B CYS-129.
DOI=10.1038/sj.ejhg.5200858; PubMed=12357336 [NCBI, ExPASy, EBI, Israel, Japan]
Schollen E.,
Martens K.,
Geuzens E.,
Matthijs G.;
"DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).";
Eur. J. Hum. Genet. 10:643-648(2002).
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[10]
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VARIANT CDG1B HIS-295.
DOI=10.1136/jmg.39.11.849; PubMed=12414827 [NCBI, ExPASy, EBI, Israel, Japan]
Vuillaumier-Barrot S.,
Le Bizec C.,
de Lonlay P.,
Barnier A.,
Mitchell G.,
Pelletier V.,
Prevost C.,
Saudubray J.-M.,
Durand G.,
Seta N.;
"Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.";
J. Med. Genet. 39:849-851(2002).
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