Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis
PY Hu, EJ Lim, J Ciccolella, P Strisciuglio… - Human …, 1997 - search.proquest.com
CA II is one of seven human carbonic anhydrase (CA) isozymes and is expressed in the
cytoplasm of some cells of virtually every human organ. Deficiency of CA II results in a …
cytoplasm of some cells of virtually every human organ. Deficiency of CA II results in a …
[引用][C] Carbonic anhydrase II deficiency in a Japanese patient produced by a nonsense mutation (TAT→ TAG) at Tyr‐40 in exon 2,(Y40X)
H Soda, S Yukizane, I Yoshida, S Aramaki… - Human …, 1995 - Wiley Online Library
The carbonic anhydrase I1 deficiency syndrome is an autosomal recessive disorder that
produces osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features …
produces osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features …
Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): Novel mutations in CA2 identified by direct sequencing …
GN Shah, G Bonapace, PY Hu, P Strisciuglio… - Human …, 2004 - Wiley Online Library
The carbonic anhydrase II (CA II) deficiency syndrome is an autosomal recessive disorder
that produces osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features …
that produces osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features …
Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome
D Lotan, A Eisenkraft, JM Jacobsson, O Bar-Yosef… - Pediatric …, 2006 - Springer
Carbonic anhydrase II (CA2) deficiency syndrome is an autosomal recessive disorder
leading to osteopetrosis, renal tubular acidosis, and cerebral calcifications. Affected …
leading to osteopetrosis, renal tubular acidosis, and cerebral calcifications. Affected …
[PDF][PDF] Carbonic anhydrase II deficiency: A novel mutation.
S Nampoothiri, Y Anikster - Indian pediatrics, 2009 - indianpediatrics.net
Carbonic anhydrase II (CA II) deficiency is an extremely rare autosomal recessive disorder,
characterised by a triad of osteopetrosis, renal tubular acidosis and cerebral calcifications. A …
characterised by a triad of osteopetrosis, renal tubular acidosis and cerebral calcifications. A …
Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the …
PJ Venta, RJ Welty, TM Johnson, WS Sly… - American journal of …, 1991 - ncbi.nlm.nih.gov
Abstract Carbonic anhydrase II (CA II), which has the highest turnover number and widest
tissue distribution of any of the seven CA isozymes known in humans, is absent from the red …
tissue distribution of any of the seven CA isozymes known in humans, is absent from the red …
Clinical and molecular heterogeneity in carbonic anhydrase II deficiency and prenatal diagnosis in an Italian family
P Strisciuglio, PY Hu, EJ Lim, J Ciccolella… - The Journal of pediatrics, 1998 - Elsevier
Carbonic anhydrase (CA) II deficiency is characterized by osteopetrosis, renal tubular
acidosis, cerebral calcification, and usually severe mental retardation. We describe an …
acidosis, cerebral calcification, and usually severe mental retardation. We describe an …
Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus
DM Fathallah, M Bejaoui, D Lepaslier, K Chater… - Human genetics, 1997 - Springer
A splice junction mutation at the exon 2–intron 2 boundary of the carbonic anhydrase II (CA
II) gene was previously shown to be the unique mutation underlying the CA II deficiency …
II) gene was previously shown to be the unique mutation underlying the CA II deficiency …
Carbonic anhydrase II deficiency: report of a novel mutation
A Alsharidi, M Al-Hamed, A Alsuwaida - CEN case reports, 2016 - Springer
Carbonic anhydrase II (CAII) deficiency is an autosomal recessive disorder characterized by
renal tubular acidosis, osteopetrosis, recurrent bone fractures, renal stones, growth failure …
renal tubular acidosis, osteopetrosis, recurrent bone fractures, renal stones, growth failure …
[引用][C] Marked zinc activation of ester hydrolysis by a mutation, 67‐His (CAT) to Arg (CGT), in the active site of human carbonic anhydrase I
WR Chegwidden, LE Wagner, PJ Venta… - Human …, 1994 - Wiley Online Library
Eight carbonic anhydrase (CA) or CA-like genes are now known to be expressed in humans.
Although the principle catalytic role of the carbonic anhydrases is the reversible hydration of …
Although the principle catalytic role of the carbonic anhydrases is the reversible hydration of …
相关搜索
- direct sequencing deficiency syndrome
- carbonic anhydrase deficiency syndrome
- direct sequencing carbonic anhydrase
- carbonic anhydrase nonsense mutation
- carbonic anhydrase japanese patient
- brain calcification deficiency syndrome
- direct sequencing brain calcification
- genotype phenotype deficiency syndrome
- direct sequencing genotype phenotype
- carbonic anhydrase brain calcification
- carbonic anhydrase genotype phenotype
- carbonic anhydrase founder effect
- sequencing analysis deficiency syndrome
- carbonic anhydrase genomic recombination