Wikidata

(Q28213469)

English

The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis

scientific article (publication date: August 2001)

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title
The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis (English)
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author name string
E Sprecher
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1
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S Chavanas
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2
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J J DiGiovanna
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3
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S Amin
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4
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K Nielsen
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5
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J S Prendiville
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6
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R Silverman
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7
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N B Esterly
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8
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M K Spraker
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9
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E Guelig
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10
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M L de Luna
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11
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M L Williams
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12
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B Buehler
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13
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E C Siegfried
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14
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L Van Maldergem
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15
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E Pfendner
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16
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S J Bale
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17
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J Uitto
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18
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G Richard
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20
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publication date
August 2001
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volume
117
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issue
2
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page(s)
179-87
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Identifiers

PubMed ID
11511292
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