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

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

Human Mutation ◽

10.1002/humu.9266 ◽

2004 ◽

Vol 24 (3) ◽

pp. 272-272 ◽

Cited By ~ 66

Author(s):

Gul N. Shah ◽

Giuseppe Bonapace ◽

Peiyi Y. Hu ◽

Pietro Strisciuglio ◽

William S. Sly

Keyword(s):

Carbonic Anhydrase ◽

Renal Tubular Acidosis ◽

Direct Sequencing ◽

Deficiency Syndrome ◽

Carbonic Anhydrase Ii ◽

Phenotype Correlation ◽

Novel Mutations ◽

Brain Calcification ◽

Renal Tubular

Kinetic analysis of a mutant (His107–>Tyr) responsible for human carbonic anhydrase II deficiency syndrome.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)53464-5 ◽

1993 ◽

Vol 268 (7) ◽

pp. 4775-4779

Author(s):

C. Tu ◽

J.M. Couton ◽

G. Van Heeke ◽

N.G. Richards ◽

D.N. Silverman

Keyword(s):

Carbonic Anhydrase ◽

Kinetic Analysis ◽

Deficiency Syndrome ◽

Carbonic Anhydrase Ii ◽

Human Carbonic Anhydrase

A novel homozygous nonsense mutation in the CA2 gene (c.368G>A, p.W123X) linked to carbonic anhydrase II deficiency syndrome in a Chinese family

Metabolic Brain Disease ◽

10.1007/s11011-021-00677-9 ◽

2021 ◽

Vol 36 (4) ◽

pp. 589-599

Author(s):

Yan Yang ◽

Nie Tang ◽

Ying Zhu ◽

Lei Zhang ◽

Xu Cao ◽

...

Keyword(s):

Carbonic Anhydrase ◽

Nonsense Mutation ◽

Deficiency Syndrome ◽

Carbonic Anhydrase Ii ◽

Chinese Family ◽

Homozygous Nonsense Mutation

Carbonic Anhydrase II Deficiency Syndrome. Clinico-pathological, Biochemical and Molecular Studies.

The Kurume Medical Journal ◽

10.2739/kurumemedj.41.233 ◽

1994 ◽

Vol 41 (4) ◽

pp. 233-240 ◽

Cited By ~ 2

Author(s):

HIROKO SODA

Keyword(s):

Carbonic Anhydrase ◽

Deficiency Syndrome ◽

Carbonic Anhydrase Ii ◽

Molecular Studies

A unique mutation underlying carbonic anhydrase II deficiency syndrome in patients of Arab descent

Human Genetics ◽

10.1007/bf00211035 ◽

1994 ◽

Vol 94 (5) ◽

Cited By ~ 22

Author(s):

DahmaniM. Fathallah ◽

Mohamed Bejaoui ◽

WilliamS. Sly ◽

Rachid Lakhoua ◽

Koussay Dellagi

Keyword(s):

Carbonic Anhydrase ◽

Deficiency Syndrome ◽

Carbonic Anhydrase Ii ◽

Arab Descent

Nephrocalcinosis and urolithiasis in carbonic anhydrase II deficiency syndrome

European Journal of Pediatrics ◽

10.1007/s004310050751 ◽

1997 ◽

Vol 156 (12) ◽

pp. 957-962 ◽

Cited By ~ 22

Author(s):

E. A. R. Ismail ◽

S. Abul Saad ◽

M. A. Sabry

Keyword(s):

Carbonic Anhydrase ◽

Deficiency Syndrome ◽

Carbonic Anhydrase Ii ◽

Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome

Pediatric Nephrology ◽

10.1007/s00467-005-2125-0 ◽

2005 ◽

Vol 21 (3) ◽

pp. 423-426 ◽

Cited By ~ 7

Author(s):

Danny Lotan ◽

Arik Eisenkraft ◽

Jeffrey M. Jacobsson ◽

Omer Bar-Yosef ◽

Robert Kleta ◽

...

Keyword(s):

Carbonic Anhydrase ◽

Deficiency Syndrome ◽

Carbonic Anhydrase Ii ◽

Carbonic anhydrase II deficiency syndrome: A report of 18 new Saudi Arabian cases

Journal of Pediatric Neurology ◽

10.3233/jpn-2010-0395 ◽

2015 ◽

Vol 08 (02) ◽

pp. 163-174

Author(s):

Mohammed Khedr ◽

Mohammed Al Ruthae ◽

Omer Suliman

Keyword(s):

Carbonic Anhydrase ◽

Saudi Arabian ◽

Deficiency Syndrome ◽

Carbonic Anhydrase Ii ◽

N-ethyl-N-nitrosourea-induced null mutation at the mouse Car-2 locus: an animal model for human carbonic anhydrase II deficiency syndrome.

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.85.6.1962 ◽

1988 ◽

Vol 85 (6) ◽

pp. 1962-1966 ◽

Cited By ~ 102

Author(s):

S. E. Lewis ◽

R. P. Erickson ◽

L. B. Barnett ◽

P. J. Venta ◽

R. E. Tashian

Keyword(s):

Animal Model ◽

Carbonic Anhydrase ◽

Deficiency Syndrome ◽

Carbonic Anhydrase Ii ◽

Null Mutation ◽

Human Carbonic Anhydrase

Carbonic Anhydrase II Deficiency Syndrome

The Carbonic Anhydrases ◽

10.1007/978-1-4899-0750-9_15 ◽

1991 ◽

pp. 183-193 ◽

Cited By ~ 3

Author(s):

William S. Sly

Keyword(s):

Carbonic Anhydrase ◽

Deficiency Syndrome ◽

Carbonic Anhydrase Ii ◽