Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.
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Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.
P2860
Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 16 July 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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Pathogenic mutations in TULP1 ...... consanguineous familial cases.
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Pathogenic mutations in TULP1 ...... consanguineous familial cases.
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Pathogenic mutations in TULP1 ...... consanguineous familial cases.
@en
Pathogenic mutations in TULP1 ...... consanguineous familial cases.
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Pathogenic mutations in TULP1 ...... consanguineous familial cases.
@en
Pathogenic mutations in TULP1 ...... consanguineous familial cases.
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P2093
P2860
P1433
P1476
Pathogenic mutations in TULP1 ...... consanguineous familial cases.
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P2093
Clare Brooks S Gottsch
Firoz Kabir
Inayat Ullah
J Fielding Hejtmancik
Javed Akram
Muhammad Asif Naeem
Muhammad Iqbal
Muhammad Zaman Assir
Radha Ayyagari
S Amer Riazuddin
P2860
P304
P577
2016-07-16T00:00:00Z