Loss of Function Mutations in PNPLA6 Encoding Neuropathy Target Esterase Cause Pubertal Failure and Cerebellar Ataxia (Gordon Holmes Syndrome) | AVESİS

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Loss of Function Mutations in PNPLA6 Encoding Neuropathy Target Esterase Cause Pubertal Failure and Cerebellar Ataxia (Gordon Holmes Syndrome)

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KOTAN L. D., Lomniczi A., Kretzschmar D., Dissen G. A., McArdle C. A., Koc F., ...More

ENDOCRINE REVIEWS, vol.35, no.3, 2014 (SCI-Expanded)

Publication Type: Article / Abstract
Volume: 35 Issue: 3
Publication Date: 2014
Journal Name: ENDOCRINE REVIEWS
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Bursa Uludag University Affiliated: Yes