Výsledky vyhledávání

Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis

Autor: William S. Sly, Pietro Strisciuglio, Jessica Ciccolella, E. Justin Lim, Peiyi Y. Hu

Publikováno v: Human Mutation. 9:383-387

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9333cdd8df21f2f1dc68136eeff07ae4
https://doi.org/10.1002/(sici)1098-1004(1997)9:5<383::aid-humu1>3.3.co

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A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries

Autor: Patrick J. Venta, Donna E. Roth, Pierre Guibaud, William S. Sly, Laura A. Skaggs, Peiyi Y. Hu, Richard E. Tashian

Publikováno v: Human Mutation. 1:288-292

Clinical manifestations in patients with carbonic anhydrase (CA) II deficiency include osteopetrosis, renal tubular acidosis, and cerebral calcification. Of the 39 reported cases of the carbonic anhydrase II deficiency syndrome, 72% were patients fro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8137b31718980c08a024044830aea91b
https://doi.org/10.1002/humu.1380010404

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Partial rescue of human carbonic anhydrase II frameshift mutation by ribosomal frameshift

Autor: Peiyi Y. Hu, Abdul Waheed, William S. Sly

A single-base-pair deletion in exon 7 of the human carbonic anhydrase II gene was found to be the molecular defect in a group of independently ascertained, clinically heterogeneous, Hispanic carbonic anhydrase II-deficient patients, all of whom had a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::658bd1a7385102efdf6e29e3bb333714
https://europepmc.org/articles/PMC42438/

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Human carbonic anhydrases and carbonic anhydrase deficiencies

Autor: Peiyi Y. Hu, William S. Sly

Publikováno v: Annual review of biochemistry. 64

Carbonic anhydrases (CAs I-VII) are products of a gene family that encodes seven isozymes and several homologous, CA- related proteins. All seven isozymes have been cloned, sequenced, and mapped, and the intron-exon organization of five genes establi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76164d66bb4da8c714c87478c2e9ea8b
https://pubmed.ncbi.nlm.nih.gov/7574487

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Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): Novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation

Autor: Peiyi Y. Hu, Gul N. Shah, Pietro Strisciuglio, William S. Sly, Giuseppe Bonapace

Publikováno v: Human Mutation. 24:272-272

The carbonic anhydrase II (CA II) deficiency syndrome is an autosomal recessive disorder that produces osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features include developmental delay, short stature, cognitive defects, an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15f66499104d21c9fdbcdd06ea163421
https://doi.org/10.1002/humu.9266

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