Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy

פריטים דומים

• TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy
  מאת: Désir, Julie, et al.
  יצא לאור: (2012)
• TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy
  מאת: Hanein, Sylvain, et al.
  יצא לאור: (2009)
• Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports
  מאת: Kloth, Katja, et al.
  יצא לאור: (2019)
• Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy.
  מאת: Chalmers, R M, et al.
  יצא לאור: (1997)
• Initiation codon mutation in βB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract
  מאת: Meyer, Esther, et al.
  יצא לאור: (2009)