(Q28187998)

2

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M Martínez-Campos

3

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A Díaz

4

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M J Coll

5

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D Grinberg

6

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L Vilageliu

American Journal of Medical Genetics Part A

7

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language of work or name

English

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publication date

1 May 2001

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published in

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volume

100

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issue

3

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page(s)

223-8

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cites work

Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations

1 reference

Molecular defects in Sanfilippo syndrome type A

21 January 2018

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Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations

21 January 2018

1 reference

Gaucher disease: the N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousand years ago.

21 January 2018

1 reference

On the age of the most prevalent Gaucher disease-causing mutation, N370S.

21 January 2018

1 reference

Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects

21 January 2018

1 reference

Structure and sequence of the human sulphamidase gene

21 January 2018

1 reference

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients

21 January 2018

1 reference

Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome

21 January 2018

1 reference

Novel mutations in Sanfilippo A syndrome: implications for enzyme function

21 January 2018

1 reference

21 January 2018

1 reference

Two new mild homozygous mutations in Gaucher disease patients: Clinical signs and biochemical analyses

21 January 2018

1 reference

Carrier detection for Sanfilippo A syndrome

21 January 2018

1 reference