position 132. The proband belonged to a two-generation family in which three members had suffered from motor neuron disease. The proband had a phenotype of predominantly lower motor neuron signs, whereas the two other affected members showed classic signs of ALS. Age of death was 52 years, 61 years,
Mutation in the 5′ noncoding region of the SRY gene in an XY sex-reversed patient
✍ Scribed by Francis Poulat; Marion Desclozeaux; Sylvie Tuffery; Philippe Jay; Brigitte Boizet; Dr. Philippe Berta
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 235 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
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The sex-determining gene SRY was screened for molecular alteration in an XY sex-reversed female by single-strand conformation polymorphism (SSCP) technique. An A-to-G transition was detected which leads to an exchange of a tyrosine by a cysteine in the SRY protein. The affected tyrosine residue loca
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