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Trinucleotide GAA repeat expansions in seven French Friedreich ataxia families.
Genet Couns. 1997; 8(3):189-94.GC

Abstract

We collected 7 Friedreich ataxia (FRDA) pedigrees from France. All cases but one family were homozygous for an unstable GAA trinucleotide expansion in the first intron of the frataxin gene. In this peculiar pedigree absence of the GAA expansion supports the notion of possible genetic heterogeneity of FRDA.

Authors+Show Affiliations

Regional Center of Neurogenetics, Maison Blanche Hospital, Reims, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

9327260

Citation

Lucotte, G, et al. "Trinucleotide GAA Repeat Expansions in Seven French Friedreich Ataxia Families." Genetic Counseling (Geneva, Switzerland), vol. 8, no. 3, 1997, pp. 189-94.
Lucotte G, Berriche S, David F, et al. Trinucleotide GAA repeat expansions in seven French Friedreich ataxia families. Genet Couns. 1997;8(3):189-94.
Lucotte, G., Berriche, S., David, F., Bathelier, C., & Turpin, J. C. (1997). Trinucleotide GAA repeat expansions in seven French Friedreich ataxia families. Genetic Counseling (Geneva, Switzerland), 8(3), 189-94.
Lucotte G, et al. Trinucleotide GAA Repeat Expansions in Seven French Friedreich Ataxia Families. Genet Couns. 1997;8(3):189-94. PubMed PMID: 9327260.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Trinucleotide GAA repeat expansions in seven French Friedreich ataxia families. AU - Lucotte,G, AU - Berriche,S, AU - David,F, AU - Bathelier,C, AU - Turpin,J C, PY - 1997/1/1/pubmed PY - 1997/11/4/medline PY - 1997/1/1/entrez SP - 189 EP - 94 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 8 IS - 3 N2 - We collected 7 Friedreich ataxia (FRDA) pedigrees from France. All cases but one family were homozygous for an unstable GAA trinucleotide expansion in the first intron of the frataxin gene. In this peculiar pedigree absence of the GAA expansion supports the notion of possible genetic heterogeneity of FRDA. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/9327260/Trinucleotide_GAA_repeat_expansions_in_seven_French_Friedreich_ataxia_families_ L2 - http://www.diseaseinfosearch.org/result/2931 DB - PRIME DP - Unbound Medicine ER -