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Items: 1 to 20 of 319

1.

Novel human pathological mutations. Gene symbol: PKLR. Disease: pyruvate kinase deficiency.

Manco L, Ribeiro ML.

Hum Genet. 2009 Apr;125(3):343. No abstract available.

PMID:
19320017
2.

Novel human pathological mutations. Gene symbol: PKLR. Disease: pyruvate kinase deficiency.

Manco L, Ribeiro ML.

Hum Genet. 2009 Apr;125(3):340. No abstract available.

PMID:
19309787
3.

Novel human pathological mutations. Gene symbol: PKLR. Disease: pyruvate kinase deficiency.

Manco L, Trovoada MJ, Ribeiro ML.

Hum Genet. 2009 Apr;125(3):340. No abstract available.

PMID:
19309805
4.

Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK.

van Wijk R, Huizinga EG, van Wesel AC, van Oirschot BA, Hadders MA, van Solinge WW.

Hum Mutat. 2009 Mar;30(3):446-53. doi: 10.1002/humu.20915.

PMID:
19085939
5.

Gene symbol: PKLR. Disease: Pyruvate kinase deficiency.

Manco L, Relvas L, Rebelo U, Vidán J, Ribeiro ML.

Hum Genet. 2008 Oct;124(3):319. No abstract available.

PMID:
18846674
6.

Human erythrocyte pyruvate kinase: characterization of the recombinant enzyme and a mutant form (R510Q) causing nonspherocytic hemolytic anemia.

Wang C, Chiarelli LR, Bianchi P, Abraham DJ, Galizzi A, Mattevi A, Zanella A, Valentini G.

Blood. 2001 Nov 15;98(10):3113-20.

7.
8.

Novel human pathological mutations. Gene symbol: WNT7A. Disease: ulnar and fibula absence, with severe limb deficiency.

Balwi MA.

Hum Genet. 2009 Apr;125(3):334. No abstract available. Erratum in: Hum Genet. 2009 Aug;126(2):353.

PMID:
19309796
9.

Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.

Chien YH.

Hum Genet. 2009 Apr;125(3):336. No abstract available.

PMID:
19309800
10.

Prenatal diagnosis for a novel homozygous mutation in PKLR gene in an Indian family.

Gupta N, Bianchi P, Fermo E, Kabra M, Warang P, Kedar P, Gupta N, Colah R.

Prenat Diagn. 2007 Feb;27(2):117-8.

PMID:
17191259
11.

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

Garcia-Consuegra I, Rubio JC, Nogales-Gadea G, Bautista J, Jiménez S, Cabello A, Lucía A, Andreu AL, Arenas J, Martin MA.

Hum Genet. 2009 Apr;125(3):343. No abstract available.

PMID:
19320016
12.

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

Viéitez I, Teijeira S, Millán BS, Navarro C.

Hum Genet. 2009 Apr;125(3):337. No abstract available.

PMID:
19309783
13.

Novel human pathological mutations. Gene symbol: GDAP1. Disease: Charcot-Marie-Tooth disease 4A.

Sahin-Calapoglu N, Soyoz M, Tan M, Calapoglu M, Ozcelik N.

Hum Genet. 2009 Apr;125(3):342. No abstract available.

PMID:
19320013
14.

Novel human pathological mutations. Gene symbol: OCA2. Disease: albinism, oculocutaneous II.

Renugadevi K, Sil AK, Perumalsamy V, Sundaresan P.

Hum Genet. 2009 Apr;125(3):340. No abstract available.

PMID:
19309806
15.

Novel human pathological mutations. Gene symbol: APC. Disease: adenomatous polyposis coli.

Chen S, Zhou J, Zhang X, Zhu M, Ma G, Li J, Zhou X.

Hum Genet. 2009 Apr;125(3):337. No abstract available.

PMID:
19309782
16.

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

Viéitez I, Teijeira S, Otolano S, Parente P, San Millán B, Navarro C.

Hum Genet. 2009 Apr;125(3):351. No abstract available.

PMID:
19320039
17.

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

Viéitez I, Teijeira S, San Millán B, Navarro C.

Hum Genet. 2009 Apr;125(3):339. No abstract available.

PMID:
19309804
18.

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

Viéitez I, Teijeira S, Millán BS, Navarro C.

Hum Genet. 2009 Apr;125(3):335. No abstract available.

PMID:
19309779
19.

Novel human pathological mutations. Gene symbol: ALPL. Disease: hypophosphatasia.

Bertola F, Arosio C, Casati G, Piperno A, Crosti F, Colombo C.

Hum Genet. 2009 Apr;125(3):334. No abstract available.

PMID:
19309795
20.

Novel human pathological mutations. Gene symbol: NPHS1. Disease: congenital nephrotic syndrome, Finnish type.

Tikhomirov E, Voznesenskaya T, Tsygin A.

Hum Genet. 2009 Apr;125(3):334. No abstract available.

PMID:
19309778
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