The neurology of carbonic anhydrase type II deficiency syndrome.

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description

2011 nî lūn-bûn

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2011年の論文

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2011年学术文章

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2011年学术文章

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2011年学术文章

@zh-cn

2011年学术文章

@zh-hans

2011年学术文章

@zh-my

2011年学术文章

@zh-sg

2011年學術文章

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2011年學術文章

@zh-hant

name

The neurology of carbonic anhydrase type II deficiency syndrome.

@en

The neurology of carbonic anhydrase type II deficiency syndrome.

@nl

type

Item

label

The neurology of carbonic anhydrase type II deficiency syndrome.

@en

The neurology of carbonic anhydrase type II deficiency syndrome.

@nl

prefLabel

The neurology of carbonic anhydrase type II deficiency syndrome.

@en

The neurology of carbonic anhydrase type II deficiency syndrome.

@nl

P1476

The neurology of carbonic anhydrase type II deficiency syndrome.

@en

P2093

Abdulmajeed AlDrees

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Adel H Suhaibani

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Bram Perdu

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Darren T Oystreck

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Hattan Khiari

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Ibrahim A Alorainy

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Khaled K Abu-Amero

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Liesbeth van Wesenbeeck

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M Zahidul Islam

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Omer S M Suliman

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P2860

Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

Molecular mechanism of kNBC1-carbonic anhydrase II interaction in proximal tubule cells

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

Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus

Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3

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 carbonic anhydrases and carbonic anhydrase deficiencies

The gene for human carbonic anhydrase II (CA2) is located at chromosome 8q22

Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

Clinical characterization of the HOXA1 syndrome BSAS variant

P304

3502-3515

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P31

scholarly article

P356

10.1093/BRAIN/AWR302

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P407

English

P433

Pt 12

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P478

134

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P50

Mustafa A. Salih

Wim Van Hul

P577

2011-11-26T00:00:00Z

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P5875

51836991

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P698

22120147

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