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A previously undescribed mutation detected by sequence analysis of CYP21A2 gene in an infant with salt wasting congenital adrenal hyperplasia.

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Title: A previously undescribed mutation detected by sequence analysis of CYP21A2 gene in an infant with salt wasting congenital adrenal hyperplasia.
Authors: Girgis R, Ajamian F, Metcalfe P
Source: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2013; Vol. 26 (7-8), pp. 765-6.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Print Cited Medium: Print ISSN: 0334-018X (Print) Linking ISSN: 0334018X NLM ISO Abbreviation: J Pediatr Endocrinol Metab Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A previously undescribed mutation detected by sequence analysis of CYP21A2 gene in an infant with salt wasting congenital adrenal hyperplasia.
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  Data: <searchLink fieldCode="AU" term="%22Girgis+R%22">Girgis R</searchLink><br /><searchLink fieldCode="AU" term="%22Ajamian+F%22">Ajamian F</searchLink><br /><searchLink fieldCode="AU" term="%22Metcalfe+P%22">Metcalfe P</searchLink>
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  Data: <searchLink fieldCode="JN" term="%229508900%22">Journal of pediatric endocrinology & metabolism : JPEM</searchLink> [J Pediatr Endocrinol Metab] 2013; Vol. 26 (7-8), pp. 765-6.
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  Data: Case Reports; Journal Article
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Walter+de+Gruyter%22">Walter de Gruyter </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>9508900 <i>Publication Model: </i>Print <i>Cited Medium: </i>Print <i>ISSN: </i>0334-018X (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%220334018X%22">0334018X </searchLink><i>NLM ISO Abbreviation: </i>J Pediatr Endocrinol Metab <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=23907417
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1515/jpem.2011.038
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 765
    Titles:
      – TitleFull: A previously undescribed mutation detected by sequence analysis of CYP21A2 gene in an infant with salt wasting congenital adrenal hyperplasia.
        Type: main
  BibRelationships:
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      – PersonEntity:
          Name:
            NameFull: Girgis R
      – PersonEntity:
          Name:
            NameFull: Ajamian F
      – PersonEntity:
          Name:
            NameFull: Metcalfe P
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 01
              Text: 2013
              Type: published
              Y: 2013
          Identifiers:
            – Type: issn-print
              Value: 0334-018X
          Numbering:
            – Type: volume
              Value: 26
            – Type: issue
              Value: 7-8
          Titles:
            – TitleFull: Journal of pediatric endocrinology & metabolism : JPEM
              Type: main
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