Geographical distribution gradients of the major PKU mutations and the linked haplotypes
Kalaydjieva, L. ; Dworniczak, B. ; Kucinskas, V. ; Yurgeliavicius, V. ; Kunert, E. ; Horst, J.
Springer
Published 1991
Springer
Published 1991
| ISSN: |
1432-1203
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|---|---|
| Source: |
Springer Online Journal Archives 1860-2000
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| Topics: |
Biology
Medicine
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| Notes: |
Summary Analysis of 81 phenylketonuria families from Bulgaria, Lithuania and eastern Germany demonstrated a high frequency of haplotype 2 and the associated Arg408 → Trp408 substitution. Haplotype 3 and the splicing mutation in intron 12 are rare or absent in the groups studies. Pooling the data on European populations suggests a Balto-Slavic origin of the defect in codon 408 of the phenylalanine hydroxylase gene and a geographical gradient in the distribution of both major PKU mutations which may contribute to the higher incidence of classic PKU in northern Europeans.
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| Type of Medium: |
Electronic Resource
|
| URL: |
| _version_ | 1798295622485278722 |
|---|---|
| autor | Kalaydjieva, L. Dworniczak, B. Kucinskas, V. Yurgeliavicius, V. Kunert, E. Horst, J. |
| autorsonst | Kalaydjieva, L. Dworniczak, B. Kucinskas, V. Yurgeliavicius, V. Kunert, E. Horst, J. |
| book_url | http://dx.doi.org/10.1007/BF00201847 |
| datenlieferant | nat_lic_papers |
| hauptsatz | hsatz_simple |
| identnr | NLM205629075 |
| issn | 1432-1203 |
| journal_name | Human genetics 〈Berlin〉 |
| materialart | 1 |
| notes | Summary Analysis of 81 phenylketonuria families from Bulgaria, Lithuania and eastern Germany demonstrated a high frequency of haplotype 2 and the associated Arg408 → Trp408 substitution. Haplotype 3 and the splicing mutation in intron 12 are rare or absent in the groups studies. Pooling the data on European populations suggests a Balto-Slavic origin of the defect in codon 408 of the phenylalanine hydroxylase gene and a geographical gradient in the distribution of both major PKU mutations which may contribute to the higher incidence of classic PKU in northern Europeans. |
| package_name | Springer |
| publikationsjahr_anzeige | 1991 |
| publikationsjahr_facette | 1991 |
| publikationsjahr_intervall | 8009:1990-1994 |
| publikationsjahr_sort | 1991 |
| publisher | Springer |
| reference | 86 (1991), S. 411-413 |
| search_space | articles |
| shingle_author_1 | Kalaydjieva, L. Dworniczak, B. Kucinskas, V. Yurgeliavicius, V. Kunert, E. Horst, J. |
| shingle_author_2 | Kalaydjieva, L. Dworniczak, B. Kucinskas, V. Yurgeliavicius, V. Kunert, E. Horst, J. |
| shingle_author_3 | Kalaydjieva, L. Dworniczak, B. Kucinskas, V. Yurgeliavicius, V. Kunert, E. Horst, J. |
| shingle_author_4 | Kalaydjieva, L. Dworniczak, B. Kucinskas, V. Yurgeliavicius, V. Kunert, E. Horst, J. |
| shingle_catch_all_1 | Kalaydjieva, L. Dworniczak, B. Kucinskas, V. Yurgeliavicius, V. Kunert, E. Horst, J. Geographical distribution gradients of the major PKU mutations and the linked haplotypes Summary Analysis of 81 phenylketonuria families from Bulgaria, Lithuania and eastern Germany demonstrated a high frequency of haplotype 2 and the associated Arg408 → Trp408 substitution. Haplotype 3 and the splicing mutation in intron 12 are rare or absent in the groups studies. Pooling the data on European populations suggests a Balto-Slavic origin of the defect in codon 408 of the phenylalanine hydroxylase gene and a geographical gradient in the distribution of both major PKU mutations which may contribute to the higher incidence of classic PKU in northern Europeans. 1432-1203 14321203 Springer |
| shingle_catch_all_2 | Kalaydjieva, L. Dworniczak, B. Kucinskas, V. Yurgeliavicius, V. Kunert, E. Horst, J. Geographical distribution gradients of the major PKU mutations and the linked haplotypes Summary Analysis of 81 phenylketonuria families from Bulgaria, Lithuania and eastern Germany demonstrated a high frequency of haplotype 2 and the associated Arg408 → Trp408 substitution. Haplotype 3 and the splicing mutation in intron 12 are rare or absent in the groups studies. Pooling the data on European populations suggests a Balto-Slavic origin of the defect in codon 408 of the phenylalanine hydroxylase gene and a geographical gradient in the distribution of both major PKU mutations which may contribute to the higher incidence of classic PKU in northern Europeans. 1432-1203 14321203 Springer |
| shingle_catch_all_3 | Kalaydjieva, L. Dworniczak, B. Kucinskas, V. Yurgeliavicius, V. Kunert, E. Horst, J. Geographical distribution gradients of the major PKU mutations and the linked haplotypes Summary Analysis of 81 phenylketonuria families from Bulgaria, Lithuania and eastern Germany demonstrated a high frequency of haplotype 2 and the associated Arg408 → Trp408 substitution. Haplotype 3 and the splicing mutation in intron 12 are rare or absent in the groups studies. Pooling the data on European populations suggests a Balto-Slavic origin of the defect in codon 408 of the phenylalanine hydroxylase gene and a geographical gradient in the distribution of both major PKU mutations which may contribute to the higher incidence of classic PKU in northern Europeans. 1432-1203 14321203 Springer |
| shingle_catch_all_4 | Kalaydjieva, L. Dworniczak, B. Kucinskas, V. Yurgeliavicius, V. Kunert, E. Horst, J. Geographical distribution gradients of the major PKU mutations and the linked haplotypes Summary Analysis of 81 phenylketonuria families from Bulgaria, Lithuania and eastern Germany demonstrated a high frequency of haplotype 2 and the associated Arg408 → Trp408 substitution. Haplotype 3 and the splicing mutation in intron 12 are rare or absent in the groups studies. Pooling the data on European populations suggests a Balto-Slavic origin of the defect in codon 408 of the phenylalanine hydroxylase gene and a geographical gradient in the distribution of both major PKU mutations which may contribute to the higher incidence of classic PKU in northern Europeans. 1432-1203 14321203 Springer |
| shingle_title_1 | Geographical distribution gradients of the major PKU mutations and the linked haplotypes |
| shingle_title_2 | Geographical distribution gradients of the major PKU mutations and the linked haplotypes |
| shingle_title_3 | Geographical distribution gradients of the major PKU mutations and the linked haplotypes |
| shingle_title_4 | Geographical distribution gradients of the major PKU mutations and the linked haplotypes |
| sigel_instance_filter | dkfz geomar wilbert ipn albert fhp |
| source_archive | Springer Online Journal Archives 1860-2000 |
| timestamp | 2024-05-06T09:39:08.131Z |
| titel | Geographical distribution gradients of the major PKU mutations and the linked haplotypes |
| titel_suche | Geographical distribution gradients of the major PKU mutations and the linked haplotypes |
| topic | W WW-YZ |
| uid | nat_lic_papers_NLM205629075 |