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HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel–Gruber in a Romani family
Clinical Genetics ( IF 2.9 ) Pub Date : 2021-09-16 , DOI: 10.1111/cge.14058
Erina Sasaki 1 , Ethna Phelan 2 , Mary O'Regan 3 , Abdul Halim Kassim 4 , Jan Miletin 5 , Corrina McMahon 6 , Maureen J O'Sullivan 7 , Julia Baptista 8, 9 , Sally Ann Lynch 1
Affiliation  

HK1 deficient Haemolytic Anaemia in association with a Neurological Phenotype & co-existing Meckel-Gruber due to CEP290 in a Romani family.
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中文翻译:

HK1 溶血性贫血与罗姆尼家族中的神经表型和共存的 CEP290 Meckel-Gruber 相关

HK1 缺陷性溶血性贫血与神经表型和共存的 Meckel-Gruber 相关,原因是CEP290在罗姆人家族中。
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更新日期:2021-09-16
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