Two mutated HEXA alleles in a Druze patient with late-infantile Tay- Sachs disease

Human Mutation

Volumn 10, Issue 6, 1997, Pages 451-457

  Drucker, Liat ^a,b   Hemli, Jesaiachu Armand ^c   Navon, Ruth ^a,b  

^a TEL AVIV UNIVERSITY   (Israel)

^b MEIR MEDICAL CENTER   (Israel)

^c RAMBAM MEDICAL CENTER   (Israel)

Author keywords

Druze; G(M2) gangliosidosis; Hexosaminidase A; Late infantile onset; Mutations; Tay Sachs disease; Transcript quantitation

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE A; COMPLEMENTARY DNA; MESSENGER RNA;

ALLELE; ANIMAL CELL; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; ETHNIC GROUP; EXON; GENE MUTATION; HUMAN; NONHUMAN; ONSET AGE; PRIORITY JOURNAL; TAY SACHS DISEASE;

ALLELES; ANIMALS; BETA-N-ACETYLHEXOSAMINIDASE; CHILD, PRESCHOOL; CONSANGUINITY; COS CELLS; FEMALE; FRAMESHIFT MUTATION; GENES; HUMANS; ISRAEL; MALE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; TAY-SACHS DISEASE; TRANSFECTION;

ANIMALIA;

EID: 0030830213     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:6<451::AID-HUMU6>3.0.CO;2-G     Document Type: Article

References (6)

1. Ainsworth PJ, Coutler-Mackie MB (1992) A double mutation in exon 6 of the β-hexosaminidase alpha subunit in a patient with B1 variant of Tay-Sachs disease. Am J Hum Genet 51:802-809.
2. Anderson RA, Byrum RS, Coates PM, Sando GN (1994) Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. Proc Natl Acad Sci USA 91:2718-2722.
3. Boles DJ, Proia RL (1995) The molecular basis of HEXA mRNA instability caused by the most common Tay-Sachs disease mutation. Am J Hum Genet 56:716-724.
4. Bouaboula M, Legoux P, Pessegue B, Delpech B, Dumont X, Piechaczyk M, Casellas P, Shire D (1992) Standardization of mRNA titration using a polymerase chain reaction method involving co-amplification with multispecific internal control. J Biol Chem 267:22830-21838.
5. Drucker L, Hemli JA, Navon R (1993) Identification of three novel HEXA mutations. Israel Academy of Sciences and Humanities, Bath Sheva De Rothchild Fund for the Advancement of Science in Israel, International Seminar on Human Genome Diversity and Congenital Disorders, October 7-11, 1993, Beit Berl. Abstract 68.
6. Drucker L, Hemli A, Navon R (1994) Differences in relative amounts of two novel HEXA transcripts in a juvenile TSD Druze patient. American Society of Human Genetics, 44th Annual meeting, October 18-22, 1994, Montreal. Am J Med Genet [Suppl] 55:A218, abstract.