错义突变
人文学科
遗传学
图书馆学
医学
突变
生物
哲学
基因
计算机科学
作者
Carlos Padrós i Reig,N. Liecha,Jaume Antich,Esther Geán,Isabel Tejada,María Cruz Molina Garúz,Jaume Reventós,Miguel Carballo
摘要
Journal Article A missense mutation (211His–Arg) and a silent (160Thr) mutation within the rhodopsin gene in a Spanish autosomal dominant retinitis pigmentosa family Get access Carlos Reig, Carlos Reig 1Secció de Genética del Hospital Sant Joan de Déu, Carretera d'Esplugues s/n, 08034 Barcelona Search for other works by this author on: Oxford Academic PubMed Google Scholar Nuria Liecha, Nuria Liecha 2Unidad de Genética del Hospital Civil de BasurtoBilbao Search for other works by this author on: Oxford Academic PubMed Google Scholar Jaume Antich, Jaume Antich 1Secció de Genética del Hospital Sant Joan de Déu, Carretera d'Esplugues s/n, 08034 Barcelona Search for other works by this author on: Oxford Academic PubMed Google Scholar Esther Gean, Esther Gean 1Secció de Genética del Hospital Sant Joan de Déu, Carretera d'Esplugues s/n, 08034 Barcelona Search for other works by this author on: Oxford Academic PubMed Google Scholar Isabel Tejada, Isabel Tejada 2Unidad de Genética del Hospital Civil de BasurtoBilbao Search for other works by this author on: Oxford Academic PubMed Google Scholar Manuel Molina, Manuel Molina 2Unidad de Genética del Hospital Civil de BasurtoBilbao Search for other works by this author on: Oxford Academic PubMed Google Scholar Jaume Reventós, Jaume Reventós 3Unitat Recerca Biomedica, Hospital Vall D'HebronSpain Search for other works by this author on: Oxford Academic PubMed Google Scholar Miguel Carballo Miguel Carballo * 1Secció de Genética del Hospital Sant Joan de Déu, Carretera d'Esplugues s/n, 08034 Barcelona3Unitat Recerca Biomedica, Hospital Vall D'HebronSpain *To whom correspondence should be addressed Search for other works by this author on: Oxford Academic PubMed Google Scholar Human Molecular Genetics, Volume 3, Issue 1, January 1994, Pages 195–196, https://doi.org/10.1093/hmg/3.1.195 Published: 01 January 1994 Article history Received: 10 August 1993 Revision received: 04 November 1993 Accepted: 04 November 1993 Published: 01 January 1994
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