Literature DB >> 6602259

[Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency - different HLA genotypes in 2 brothers].

M Dumić, V Plavsić, L Brkljacić, V Sarnavka, D Mardesić, M Tajić, A Kastelan.   

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Year:  1983        PMID： 6602259

Source DB:  PubMed          Journal:  Lijec Vjesn        ISSN： 0024-3477


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  2 in total

1.  Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in exon 8 in the other.

Authors:  Katja Dumic; Robert Wilson; Pavinee Thanasawat; Zorana Grubic; Vesna Kusec; Katarina Stingl; Maria I New
Journal:  Eur J Pediatr       Date:  2009-12-22       Impact factor: 3.183

2.  Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11 β -Hydroxylase Deficiency.

Authors:  Katja Dumic; Tony Yuen; Zorana Grubic; Vesna Kusec; Ingeborg Barisic; Maria I New
Journal:  Int J Endocrinol       Date:  2014-06-02       Impact factor: 3.257
  2 in total

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