Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.

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A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.

P2860

Q36057514-957835E8-66C6-4906-9AF6-91789CEDE09C Q46182724-888CDC3A-A656-448F-BB7D-F5C17240CEFE

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Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.

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http://www.wikidata.org/entity/Q36257781

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2015 nî lūn-bûn

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Mutations in GRM6 identified i ...... al stationary night blindness.

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Mutations in GRM6 identified i ...... al stationary night blindness.

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Mutations in GRM6 identified i ...... al stationary night blindness.

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Mutations in GRM6 identified i ...... al stationary night blindness.

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Mutations in GRM6 identified i ...... al stationary night blindness.

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Mutations in GRM6 identified i ...... al stationary night blindness.

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P1476

Mutations in GRM6 identified i ...... al stationary night blindness.

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Alexander D H Gottsch

http://www.w3.org/2001/XMLSchema#string

Inayat Ullah

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J Fielding Hejtmancik

http://www.w3.org/2001/XMLSchema#string

Javed Akram

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Muhammad Asif Naeem

http://www.w3.org/2001/XMLSchema#string

Nadeem H Butt

http://www.w3.org/2001/XMLSchema#string

Radha Ayyagari

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S Amer Riazuddin

http://www.w3.org/2001/XMLSchema#string

Shaheen N Khan

http://www.w3.org/2001/XMLSchema#string

Sheikh Riazuddin

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P2860

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking

Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness

GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness

Mutations in TRPM1 are a common cause of complete congenital stationary night blindness

The whole nucleotide sequence and chromosomal localization of the gene for human metabotropic glutamate receptor subtype 6

Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness

Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6

A simple salting out procedure for extracting DNA from human nucleated cells

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1261-1271

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scholarly article

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2015-10-31T00:00:00Z

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26628857

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P921

congenital stationary night blindness

birth defect

Pakistan

P932

4636350

http://www.w3.org/2001/XMLSchema#string

Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.

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P2860

P2860

Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.

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type

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P1433

P1476

P2093

P2860

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P577

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P921

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P1433

P1476

P2093

P2860

P304

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P478

P577

P698

P921

P932