(Q28207710)

1

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D E Roth

2

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L A Skaggs

3

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P J Venta

4

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R E Tashian

5

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W S Sly

7

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Hu PY

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301935

10 September 2022

Roth DE

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301935

10 September 2022

Skaggs LA

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301935

10 September 2022

Venta PJ

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301935

10 September 2022

Tashian RE

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301935

10 September 2022

Guibaud P

6

1 reference

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10 September 2022

Sly WS

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301935

Variation in coding exons of two electrophoretic alleles at the pigtail macaque carbonic anhydrase I locus as determined by direct, double-stranded sequencing of polymerase chain reaction (PCR) products

10 September 2022

language of work or name

English

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publication date

1992

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published in

Human Mutation

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volume

1

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issue

4

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page(s)

288-92

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010404

7 January 2021

Marble brain disease: recessive osteopetrosis, renal tubular acidosis and cerebral calcification in three Saudi Arabian families.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010404

7 January 2021

Molecular basis of human carbonic anhydrase II deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010404

7 January 2021

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010404

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010404

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010404

7 January 2021

Variable clinical presentation of carbonic anhydrase deficiency: evidence for heterogeneity?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010404

7 January 2021

Osteopetrosis associated with proximal and distal tubular acidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010404

7 January 2021

Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010404

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380010404

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