Literature DB >> 9375850

Two novel (1334delC and 1363G to A, G455R) mutations in exon 12 of the beta-hexosaminidase alpha-chain gene in two Portuguese patients.

M Gil Ribeiro1, R A Pinto, K Suzuki, M C Sá Miranda.   

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Year:  1997        PMID： 9375850     DOI： 10.1002/(SICI)1098-1004(1997)10:5<359::AID-HUMU4>3.0.CO;2-A

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  1 in total

1.  Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: dating of founder ancestor.

Authors:  Mazal Karpati; Ephraim Gazit; Boleslaw Goldman; Amos Frisch; Roberto Colombo; Leah Peleg
Journal:  Neurogenetics       Date:  2003-11-27       Impact factor: 2.660
  1 in total

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